1,486 results on '"Hair Diseases pathology"'
Search Results
2. Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.
- Author
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Saeki N, Inui-Yamamoto C, Ikeda Y, Kanai R, Hata K, Itoh S, Inubushi T, Akiyama S, Ohba S, and Abe M
- Subjects
- Animals, Mice, Transcription Factors genetics, Transcription Factors metabolism, Disease Models, Animal, Humans, Fingers abnormalities, Regulatory Sequences, Nucleic Acid genetics, Growth Disorders genetics, Growth Disorders pathology, Phenotype, Langer-Giedion Syndrome genetics, Langer-Giedion Syndrome pathology, Repressor Proteins genetics, Repressor Proteins metabolism, DNA-Binding Proteins genetics, DNA-Binding Proteins metabolism, Nose abnormalities, Nose pathology, Hair Diseases genetics, Hair Diseases pathology, Mice, Knockout
- Abstract
Trichorhinophalangeal syndrome (TRPS) is a genetic disorder caused by point mutations or deletions in the gene-encoding transcription factor TRPS1. TRPS patients display a range of skeletal dysplasias, including reduced jaw size, short stature, and a cone-shaped digit epiphysis. Certain TRPS patients experience early onset coxarthrosis that leads to a devastating drop in their daily activities. The etiologies of congenital skeletal abnormalities of TRPS were revealed through the analysis of Trps1 mutant mouse strains. However, early postnatal lethality in Trps1 knockout mice has hampered the study of postnatal TRPS pathology. Here, through epigenomic analysis we identified two previously uncharacterized candidate gene regulatory regions in the first intron of Trps1. We deleted these regions, either individually or simultaneously, and examined their effects on skeletal morphogenesis. Animals that were deleted individually for either region displayed only modest phenotypes. In contrast, the Trps1Δint/Δint mouse strain with simultaneous deletion of both genomic regions exhibit postnatal growth retardation. This strain displayed delayed secondary ossification center formation in the long bones and misshaped hip joint development that resulted in acetabular dysplasia. Reducing one allele of the Trps1 gene in Trps1Δint mice resulted in medial patellar dislocation that has been observed in some patients with TRPS. Our novel Trps1 hypomorphic strain recapitulates many postnatal pathologies observed in human TRPS patients, thus positioning this strain as a useful animal model to study postnatal TRPS pathogenesis. Our observations also suggest that Trps1 gene expression is regulated through several regulatory elements, thus guaranteeing robust expression maintenance in skeletal cells., (© The Author(s) 2024. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
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- 2024
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3. Updates on disorders in curly hair.
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Geisler AN, Taye M, Larrondo J, Mayo TT, Aguh C, McMichael A, MacKelfresh JB, and Krueger L
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- Humans, Hair Follicle pathology, Hair Preparations adverse effects, Dermoscopy, Hair Diseases diagnosis, Hair Diseases pathology, Hair Diseases etiology, Cicatrix etiology, Cicatrix pathology, Cicatrix diagnosis, Female, Alopecia diagnosis, Alopecia etiology, Alopecia pathology, Hair pathology
- Abstract
Hair disorders, including central centrifugal cicatricial alopecia (CCCA), traction alopecia (TA), and acquired trichorrhexis nodosa (ATN), commonly occur in individuals with curly textured hair. Curly textured hair in individuals of African descent has unique properties and can present diagnostic and therapeutic challenges. CCCA has been linked to uterine leiomyoma and type 2 diabetes mellitus, as well as fibroproliferation. TA often presents with a fringe sign and can arise from high-tension hairstyles presumed to be protective. Trichoscopy is useful in establishing a diagnosis; perifollicular halos are more commonly seen than perifollicular erythema or scale in CCCA. In TA, miniaturized follicles, hair casts, and "flambeau sign" can be seen. Hairstyling practices likely contribute to TA and ATN; however, the data are mixed on the role of chemical relaxers and heat styling in CCCA. Unique considerations in the presentation of frontal fibrosing alopecia in curly textured hair have also been published recently. This review provides a comprehensive, up-to-date summary of these disorders with an emphasis on their unique properties, as well as considerations in hair care for curly textured hair., (© 2024 the International Society of Dermatology.)
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- 2024
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4. Melanocytic matricoma: a pigmented lesion on the forehead.
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Alonso-de-León T, Barrera-Ochoa C, Cano-Aguilar LE, Munguia-Galeano KL, Flores-Ochoa JF, and Vega-Memije ME
- Subjects
- Humans, Melanocytes pathology, Female, Male, Hair Diseases pathology, Biopsy, Forehead pathology, Skin Neoplasms pathology
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- 2024
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5. Giant perforating pilomatricoma with osseous metaplasia.
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Almeida VOC, Camargo ACM, Ataíde MS, Tristão RJ, and Silva TN
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- Humans, Ossification, Heterotopic pathology, Ossification, Heterotopic diagnostic imaging, Metaplasia pathology, Male, Female, Biopsy, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases pathology
- Published
- 2024
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6. Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma.
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Wang JW, Behnam R, and Porto DA
- Subjects
- Humans, Neoplasm Recurrence, Local genetics, Neoplasm Recurrence, Local pathology, Hair Diseases genetics, Hair Diseases pathology, Hair Diseases diagnosis, Male, Adult, Female, Pilomatrixoma genetics, Pilomatrixoma pathology, Pilomatrixoma diagnosis, Skin Neoplasms genetics, Skin Neoplasms pathology, Skin Neoplasms diagnosis, Mosaicism, Chromosomes, Human, Pair 9 genetics, Aneuploidy
- Abstract
Tetrasomy 9p is a rare genetic syndrome resulting from two additional copies of the short arm of chromosome 9. Symptoms often present in the form of congenital abnormalities including cognitive disabilities, growth retardation, abnormal earlobes, congenital heart disease, and dysmorphia of the skull and face. Current literature suggests patients with tetrasomy 9p may exhibit any combination of these symptoms or, in rare instances, none at all. Although karyotyping, chromosomal microarray, and galactose-1-phosphate uridyltransferase activity analyses are the definitive diagnostic methods used, there remains a need for more robust clinical recognition in cases of mild phenotypic expression. Herein, we present a rare case of mosaic tetrasomy 9p in a long-term survival patient with multiple and recurrent pilomatrixomas, rare benign growths more commonly found in individuals under the age of 20. To our knowledge, only two previous reports have noted concurrent tetrasomy 9p with pilomatrixomas. We are the first to identify this phenotype in an adult tetrasomy 9p patient. Dermatopathology evaluation was conducted to verify our diagnoses. Our aim is to present a unique, additional case suggesting multiple pilomatrixomas as a new defining clinical presentation of mosaic tetrasomy 9p and to review the literature underlying the genetic changes associated with this syndrome.
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- 2024
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7. Dermotoscope assisted diagnosis of adolescent bullous pilomatricoma: six case reports.
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Liu J, Liu X, Qu Y, and Zhang S
- Subjects
- Humans, Male, Female, Adolescent, Child, Young Adult, Pilomatrixoma pathology, Pilomatrixoma diagnosis, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Dermoscopy, Hair Diseases diagnosis, Hair Diseases pathology
- Abstract
Background: Pilomatricoma (PM) is a cutaneous benign neoplasm derived from the hair matrix. It clinically presents as a solitary and firm nodule overlying normal epidermis and is usually not easy to be noticed at early stage. Nevertheless, when special bullous lesion occurs in a short time or even ulcerates, preoperative diagnosis by a dermatologist is often challenging especially when the pediatric patients refuse biopsy., Case Presentation: We present six bullous PM cases and particularly conduct correlation analysis on the dermotoscopy and histopathology detection data. The basic information, medical history, symptoms and lesion morphology results of the patients were also provided. We found that the incidence of bullous PM was higher in females than in males, and most patients were adolescents and the predilection location seem to be consistent in the vaccine injection site. The dermatoscopic features of bullous PM reported were luminous yellow structure below, with gray-blue homogeneous areas and branched capillary. The histological features were consistent with PM, and evident epidermis bullae were above the tumor with extraordinary dilation of lymphangion in the upper dermis. The patients described in this study were Chinese patients in Han population included 4 females and 2 males, coincidentally, they are almost teen-age, respectively are 5,11,17,19,21,22 year-old., Conclusions: This study reported and analyzed the dermotoscopy and clinical characteristics of bullous PM, dermotoscopy may guide as a rapid and reliable technique in bullous PM diagnosis., (© 2024. The Author(s).)
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- 2024
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8. The horizontal and vertical pathological perspectives of black dot ringworm hair.
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Ran X and Ran Y
- Subjects
- Humans, Hair pathology, Female, Male, Hair Diseases pathology, Hair Diseases diagnosis
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- 2024
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9. Pilomatrix Carcinoma: A Retrospective Chart Review of 17 Patients.
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Amin M, Kneiber D, Cassarino D, and Eisen DB
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- Humans, Retrospective Studies, Male, Female, Middle Aged, Aged, Adult, Hair Diseases pathology, Aged, 80 and over, Skin Neoplasms pathology, Skin Neoplasms surgery, Pilomatrixoma pathology, Pilomatrixoma surgery, Pilomatrixoma diagnosis
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- 2024
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10. Pilomatricomas: Benign lesions mimicking malignant tumors in older people.
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Morón-Ocaña JM, Clavijo-Herrera J, Piédrola-Gordillo C, and Coronel-Pérez IM
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- Humans, Diagnosis, Differential, Male, Female, Aged, 80 and over, Aged, Pilomatrixoma diagnosis, Pilomatrixoma pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Hair Diseases diagnosis, Hair Diseases pathology
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- 2024
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11. Post-traumatic Bullous Pilomatrixoma Exploring the Pathogenesis.
- Author
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Martínez-Ortega JI, Ortega-Valerio G, and Ramirez-Cibrian AG
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- Humans, Male, Child, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases pathology, Hair Diseases etiology
- Abstract
Abstract: This report demonstrates the rare variant of bullous pilomatrixoma in a 10-year-old boy who presented with a rapidly growing, red-colored, bullous nodule on his neck after trauma. The exact etiology of this subtype of pilomatrixoma is unclear, but previous studies have suggested that mechanical trauma may trigger its development., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2024
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12. Increasing the Awareness of Pilomatricoma in the Preauricular Area.
- Author
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Jeong J and Kim EK
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- Adult, Humans, Hair Diseases pathology, Hair Diseases surgery, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms pathology, Skin Neoplasms surgery
- Abstract
Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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13. Case report: Pilomatrix carcinoma with PDL1 expression and CDKN2A aberrant.
- Author
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Abula A, Ma SQ, Wang S, Peng W, Pei X, and Hu ZY
- Subjects
- Humans, Male, Middle Aged, Mutation, Hair Diseases genetics, Hair Diseases pathology, Cyclin-Dependent Kinase Inhibitor p16 genetics, B7-H1 Antigen genetics, B7-H1 Antigen metabolism, Skin Neoplasms genetics, Skin Neoplasms pathology, Pilomatrixoma genetics, Pilomatrixoma pathology
- Abstract
Case Report: A 55-year-old male patient developed a mass in the left inguinal area with left lower limb swelling and first visited a local hospital 3 months earlier because of unrelieved pain. An MRI scan suggested left suprapubic branch and left acetabular bone destruction, abnormal soft tissue signals within the iliopsoas muscle of the anterior edge of the left iliac bone, and enlarged lymph nodes in the left iliac fossa and left inguinal region. The patient subsequently underwent left pelvic lesion open biopsy and inguinal lymph node resection biopsy. According to pathological reports, the left inguinal mass was considered to be a malignant tumor of cutaneous accessory origin (pilomatrix carcinoma) with extensive vitreous changes. The suprapupubis branch mass was considered to be a bone metastatic pilomatrix carcinoma. Immunohistochemistry (IHC) revealed a PDL1 combined positive score (CPS) of 8. DNA next-generation sequencing (NGS) showed CDKN2A L65Rfs*53 mutation. The patient received three cycles of gemcitabine and nedaplatin. However, the lesion progressed., Conclusion: Chemotherapy is not effective for treating pilomatrix carcinoma. PDL1 antibodies and CDK4/6 inhibitors might be treatment options for pilomatrix carcinoma., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Abula, Ma, Wang, Peng, Pei and Hu.)
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- 2024
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14. Pili canaliculi caused by cetuximab - A three-dimensional ultrastructural analysis.
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Larangeira de Almeida H Jr, Sarzi Sartori D, Sato Shinzato FY, da Silva Julião S, and Saueressig S
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- Humans, Antineoplastic Agents, Immunological adverse effects, Male, Imaging, Three-Dimensional, Hair Diseases pathology, Hair Diseases chemically induced, Female, Middle Aged, Cetuximab adverse effects
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- 2024
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15. Clinicopathological and immunohistochemical characteristics of bullous pilomatricoma: a retrospective, single-center study, and comparison with ordinary pilomatricoma.
- Author
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Nam KH, Lee SK, Lee IJ, Park J, and Yun SK
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- Humans, Retrospective Studies, Female, Male, Adult, Middle Aged, Young Adult, Adolescent, Child, Pilomatrixoma pathology, Skin Neoplasms pathology, Immunohistochemistry, Hair Diseases pathology
- Abstract
Background: Bullous pilomatricoma is a rare variant of pilomatricoma. As it has been published in sporadic case reports, a limited understanding of its clinicopathological characteristics restricts its effective diagnosis and treatment., Objectives: This study aimed to analyze the clinicopathological and immunohistochemical characteristics of bullous pilomatricoma to better understand the bullous transformation of pilomatricoma., Methods: The authors conducted a retrospective study of 12 patients with bullous pilomatricoma and compared their clinical, histopathological, and immunohistochemical data with those of patients with ordinary pilomatricoma., Results: Bullous pilomatricoma showed no sex preference, with a mean onset age of 31.2 years. The common sites were the upper extremities and trunk. Bullous pilomatricoma had a shorter disease duration, a larger diameter, and a greater tendency to increase in size than those of ordinary pilomatricoma. Histopathologically, bullous pilomatricoma had a shorter duration, lesser calcification, more mitotic figures, and distinct dermal features from those of ordinary pilomatricoma. Immunohistochemically, the expression of Matrix Metalloprotease (MMP)-2, MMP-9, vascular endothelial growth factor receptor-3 (VEGFR-3), and VEGF-C was elevated., Study Limitations: The study was retrospective, and the sample size was small., Conclusion: The distinctive features of bullous pilomatricoma potentially result from dermal changes associated with the release of angiogenic factors and proteolytic enzymes. This comprehensive analysis provides novel insights into the clinical features and pathogenesis of bullous pilomatricoma., (Copyright © 2024 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. All rights reserved.)
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- 2024
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16. A case of lymphangiectatic variant of giant pilomatricoma with bullous appearance: evaluation through magnetic resonance imaging.
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Kobayashi A, Terui H, Takahashi T, Mizuashi M, and Asano Y
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- Humans, Magnetic Resonance Imaging, Pilomatrixoma diagnostic imaging, Pilomatrixoma pathology, Hair Diseases diagnostic imaging, Hair Diseases pathology, Skin Neoplasms diagnostic imaging, Skin Neoplasms surgery
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- 2024
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17. A Retrospective Study of the Clinicopathological Characteristics of Approximately 1,600 Pilomatricomas Treated at a Single Institution.
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Kinoshita Y, Ogita A, Ito K, and Saeki H
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- Humans, Male, Female, Retrospective Studies, Adolescent, Child, Adult, Young Adult, Middle Aged, Child, Preschool, Aged, Age Factors, Neoplasm Staging, Sex Factors, Infant, Time Factors, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms pathology, Skin Neoplasms surgery, Hair Diseases pathology, Hair Diseases surgery
- Abstract
Background: First reported by Malherbe in 1880, pilomatricoma is a common benign skin tumor generally believed to occur mainly in children and adolescents. We conducted this study to better define the characteristics of pilomatricoma and compare our findings with current knowledge., Methods: Patients diagnosed pathologically with pilomatricoma from 2016 through 2020 at Nippon Medical School Musashi Kosugi Hospital were included (1,559 patients, 1,590 tumors). Clinicopathological characteristics were analyzed., Results: The male to female ratio was 1:1.6, and the most common tumor site was the upper limbs (33.7%). Preoperative diagnosis was correct in 48.5% of the patients, and their average age at resection was 33.5 years. Resection was carried out in 70% of the patients within 1 year, but time to resection was more than 1 year in the other 30%. Pathologically, squamous stratifying keratinocytes were observed in 41.7% of the patients, cells with a large pale pink cytoplasm in 38.9%, hair papilla-like structures in 33.9%, ossification in 15.7%, trichohyalin granules in 11.9%, and aggregations of follicular germinative cells in 7.8%. Of the chronological and morphological stages proposed by Kaddu (stage 1: early, stage 2: fully developed, stage 3: early regressive, stage 4: late regressive), stage 3 was the most common (70.6%)., Conclusion: Pilomatricoma is more common in females, regardless of ethnicity or age, but the tumor location in the upper limbs commonly observed in Japanese patients may indicate ethnic differences. Pathologically, the fact that cells linked to follicular differentiation are observed suggests that pilomatricoma is a complex panfollicular neoplasm. Time to resection appears to correlate with Kaddu stages. Factors such as age, location, sex, depth, and stage may affect the pathological features of this tumor.
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- 2024
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18. Pilomatrixomas: 31 years of experience in population under and over 18 years of age.
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Figueroa-Basurto CI, Sierra-Maeda KY, Ramírez-Terán AL, Memije MEV, and Cárdenas-Hernández ML
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- Humans, Female, Male, Retrospective Studies, Child, Cross-Sectional Studies, Adolescent, Child, Preschool, Young Adult, Adult, Infant, Middle Aged, Sex Distribution, Incidence, Age Distribution, Pilomatrixoma pathology, Pilomatrixoma epidemiology, Skin Neoplasms pathology, Skin Neoplasms epidemiology, Hair Diseases epidemiology, Hair Diseases pathology
- Abstract
Background: Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a benign cutaneous neoplasm that demonstrates differentiation towards the matrix portion of hair follicles. It is the most common benign cutaneous neoplasm in childhood and youth, although it can occur at any age. With a general incidence ranging from 0.001% to 0.0031% of all cutaneous tumors. There is a slight predilection for females, with a female-to-male ratio of 1.15:1., Methods: Observational, descriptive, retrospective, and cross-sectional study conducted using the electronic database of the dermatopathology department of Dr. Manuel Gea González General Hospital, from January 1992 to July 2023. Only cases with a histopathological diagnosis of pilomatrixoma, pilomatricoma, and Malherbe's calcifying epithelioma were included., Results: A total of 200 pilomatrixomas were recorded in 177 patients. The tumor predominantly affected females in the pediatric age group, with an average age of 22.98 years in the studied population. The most common location was the head (periorbital region), followed by the upper extremities and trunk. Upon separating the population into pediatric and adult groups, 111 and 89 cases were identified, respectively., Conclusions: We present a detailed study on pilomatrixomas with a comprehensive overview of the demographic, clinical, and epidemiological characteristics of this benign cutaneous neoplasm. The results revealed robust statistical data highlighting the distribution by age, gender, topography, morphology, accompanying symptoms, and frequency of clinical differential diagnoses. This study significantly contributes to the existing knowledge of pilomatrixomas and serves as a valuable reference for future research and clinical practice., (Copyright: © 2024 Permanyer.)
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- 2024
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19. Epidemiology, clinical characteristics, treatment, and outcomes of proliferating pilar tumors: A systematic review.
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Nemeh MN, Curtiss P, and Nijhawan RI
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- Aged, Female, Humans, Male, Hair Follicle pathology, Radiotherapy, Adjuvant, Hair Diseases pathology, Neoplasms, Adnexal and Skin Appendage, Skin Neoplasms epidemiology, Skin Neoplasms therapy, Skin Neoplasms pathology
- Abstract
Background: Proliferating pilar tumors (PPTs) are rare cutaneous neoplasms arising from hair follicles that have both malignant and metastatic potential., Objective: To present a systematic review of the epidemiology, clinical characteristics, and treatment and outcome data on PPTs., Methods: Using the OVID platform, MEDLINE and Embase were searched from inception until May 26, 2022. All studies that provided original data on PPTs in English were included. References of these studies were also cross-checked to identify any additional relevant articles. Oxford's Levels of Evidence-Based Medicine was used for quality assessment., Results: A total of 114 articles, providing data on 361 cases of PPTs, were included in our synthesis. Every study included was either a case series or case report. The mean age at diagnosis was 61.7. Most patients in the synthesis were female (71%), and the majority of cases occurred on the scalp (73.1%). The presence or absence of cytological atypia was only reported in one-third of the cases; 36.8% of cases were classified as malignant and 7.5% metastasized. Although no lesions treated with Mohs micrographic surgery required adjuvant radiation and only one reported recurrence occurred after Mohs surgery, there is insufficient data to make conclusions on a superior treatment modality., Limitations: All studies in this review were either case reports or case series., Conclusions and Relevance: Our study supports the notion that PPTs occur most commonly on the scalp of elderly female patients. Moreover, our findings confirm that PPT is capable of demonstrating aggressive biology and metastasis. Given the lack of uniformity in histologic description, pathologists should be encouraged to comment on the presence and degree of cytological atypia when reporting cases of rare neoplasms such as the PPT. Greater consensus on diagnosis and classification as well as more robust data is needed regarding optimal management., Competing Interests: Conflicts of interest None disclosed., (Copyright © 2023 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)
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- 2024
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20. Clinical and Pathological Features of Pilomatrixoma in Children: A Retrospective Study.
- Author
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Fu H, Shen C, Wu B, Wang T, Wu J, Li Y, Ding J, and Gao J
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- Humans, Retrospective Studies, Female, Child, Male, Child, Preschool, Infant, Adolescent, Tumor Burden, Upper Extremity pathology, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases pathology
- Abstract
Introduction: Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children., Methods: Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women's and Children's Hospital were collected and analyzed retrospectively., Results: The mean age of the patients was 5.7 (standard deviation [SD] = 3.9) years old, and there were 2 age peaks (≤1 year old, 5-11 years old) and 2 age valleys (2-4 years old, ≥12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients' disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume was 0.6 (SD = 1.0) cm3, and 81.3% of the patients' tumor volume ≤1.0 cm3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients (p > 0.05). The age and tumor volume of the patients in different body parts were significantly different (P1 = 3.10E-05 and P2 = 5.60E-05, respectively). The correlation between the disease course and tumor volume was positively significant (p ≤ 0.05). There was a significant correlation between the disease course and tumor volume in patients with tumors at upper limbs (p = 0.03)., Conclusion: The age of children with pilomatrixoma presented 2 peaks and 2 valleys. Most patients had disease courses in 24 months and with tumor volumes ≤1.0 cm3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck were the most common distribution sites of pilomatrixoma, and shadow cells and basaloid cells were the most common pathological features. The tumor volume was positively correlated with disease course in patients with pilomatrixoma., (© 2024 S. Karger AG, Basel.)
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- 2024
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21. Surgical experiences in pediatric pilomatricoma: punch incision and elliptical excision.
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Choi H, Shim DH, Na CH, Shin BS, and Kim MS
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- Female, Humans, Child, Male, Retrospective Studies, Pilomatrixoma surgery, Pilomatrixoma pathology, Skin Neoplasms surgery, Skin Neoplasms pathology, Hair Diseases surgery, Hair Diseases pathology
- Abstract
Background: As pilomatricoma is a common adnexal skin tumor often occurring in exposed areas, dermatologists focus on minimizing postsurgical scarring., Methods: This retrospective study included patients aged < 19 years who underwent surgical treatment for pilomatricoma at a single university hospital from 2015 to 2021. Patient demographics, tumor characteristics, and surgical outcomes were analyzed according to the surgical methods including punch incision and elliptical excision., Results: Overall, 75 patients and 79 lesions were included in the study. The mean age of the patients was 8.4 years, and 48 patients (64.0%) were females. The face was the most common site of pilomatricoma (51.9%), and within the face, the cheeks were the most common sites. No recurrence was observed in the elliptical excision group, while one case of recurrence (4.5%) was observed in the punch incision group. The mean length of the wound was 2.00 cm in the elliptical excision group, which was longer than that in the punch incision group (0.49 cm; p < .001)., Conclusions: Considering that surgery is the gold standard treatment for pilomatricoma, punch incision may be useful as an alternative surgical option for pilomatricoma in children.
- Published
- 2023
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22. Spindle Cell-Predominant Trichodiscoma With Palisading Arrangement: A Rare Variant.
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Linfante A, Carrillo B, Jones J, and Goodwin B
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- Male, Middle Aged, Humans, Sebaceous Glands pathology, Nose pathology, Skin Neoplasms pathology, Hair Diseases pathology, Neurilemmoma pathology
- Abstract
Abstract: Spindle cell-predominant trichodiscoma (SCPT) is a benign adnexal neoplasm, best categorized within the trichodiscoma-fibrofolliculoma continuum. SCPTs clinically present as dome-shaped papules usually on the face, particularly on the nose or the nasolabial fold. The SCPT variant has been described as a particularly cellular trichodiscoma composed of small interweaving fascicles and sheets of spindle cells. Identical lesions were previously referred to as neurofollicular hamartomas because of their predominantly fascicular stromal cellularity and focal S100 positivity. In this article, we report a rare variant of SCPT with a palisaded arrangement. The patient is a middle-aged man with no significant dermatologic history who presented with a skin-colored papule on the left nasal ala. It had been present for approximately 10 years with only minimal growth over that time. A biopsy was obtained. Histopathological analysis revealed a dermal papule composed of bland spindle cells arranged in a striking palisading pattern within a fibromyxoid stroma with associated peripheral hyperplasia of sebaceous glands. The palisaded pattern shared features reminiscent of Verocay bodies of a schwannoma. Immunohistochemical studies revealed stromal spindled cells with a strong and diffuse pattern of CD34 expression and absent S100 and SOX10 expressions. To our knowledge, only 2 cases of SCPT with a palisaded pattern have been presented. SCPT with a palisaded pattern is a rare histopathologic variant that may resemble a schwannoma but can be recognized by its strong epithelial components and immunohistochemical staining pattern., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
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23. Childhood pilomatrixoma mimicking malignant small round blue cell tumor with positivity for CD99: Potential pitfall in cytology.
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Singh B, Srinivasan R, Bansal D, Rohilla M, Dey P, Saikia UN, and Nada R
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- Humans, Child, Biopsy, Fine-Needle, Epithelial Cells pathology, Diagnosis, Differential, 12E7 Antigen, Pilomatrixoma diagnosis, Pilomatrixoma pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Sarcoma diagnosis, Hair Diseases diagnosis, Hair Diseases pathology
- Abstract
Pilomatrixoma is a relatively rare benign skin appendageal tumor, often presenting in the pediatric age group as a nodular lesion and most commonly involving the head and neck, making it amenable to primary fine needle aspiration (FNA) diagnosis. We report the clinical and histopathological findings of two cases of pilomatrixoma in children, both of which were initially misdiagnosed as small round blue cell tumors due to high cellularity and misinterpretation of the proliferating basaloid cells. Histopathology revealed basal cell proliferation and mitoses indicating that they were progressive, early lesions. The first case showed membranous positivity for CD99 which prompted a diagnosis of Ewing sarcoma. Awareness of the morphological spectrum including positivity for CD99 and careful evaluation of cell block histology could have averted the misdiagnosis. Pilomatrixoma should be included as an important differential diagnosis when faced with primitive-appearing cells on FNA, especially in children with mass lesions in the head and neck region., (© 2023 Wiley Periodicals LLC.)
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- 2023
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24. Linear alopecia in pediatrics: RCM and dermoscopy reveal diagnostic cues.
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Wang Y, Chen L, Qin B, and Li Q
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- Humans, Child, Dermoscopy methods, Cues, Hair pathology, Alopecia diagnostic imaging, Alopecia pathology, Alopecia Areata diagnostic imaging, Alopecia Areata pathology, Hair Diseases pathology
- Abstract
Background: Alopecia areata (AA), trichotillomania (TM), nevus sebaceous (NS), and linear scleroderma en coup de sabre (LSCS) can all present with a patch of linear alopecia, making diagnosis challenging. The purpose of this study was to combine reflectance confocal microscopy (RCM) and dermoscopy in the diagnosis of these lesions in children., Methods: A total of 36 patients with linear alopecia were enrolled, of whom 14 had AA, seven had TM, nine had NS, and six had LSCS. We evaluated the characteristics and distinguishing features of the four conditions using RCM and dermoscopy., Results: The key to differential diagnosis was the dermal Hair follicle density in the dermis was decreased in AA, and the size and density of the follicular openings were normal in TM. In NS, the major features were petal-like and frogspawn-like structures. In LSCS, dermal papillary rings, sebaceous glands, and follicles were partially or completely missing, and abundant fibrous material was distributed in the dermis. Dermoscopy revealed alopecia, and all four conditions resulted in decreased hair density. AA patients exhibited yellow dots, black dots, and exclamation mark hairs. TM patients presented with irregularly broken hairs and blood spots. Both NS and LSCS patients exhibited an absence of follicular openings; NS patients demonstrated whitish and yellowish round structures, while an atrophic area with white patches, linear vessels, and no yellow or black dots was observed in LSCS patients CONCLUSION: RCM combined with dermoscopy can provide additional information on disease states and differentiate between AA, TM, NS, and LSCS., (© 2023 The Authors. Skin Research and Technology published by John Wiley & Sons Ltd.)
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- 2023
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25. Spatial transcriptomics of a giant pilomatricoma.
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Patil AT, Bennett DD, Xu J, Weisman P, and Matson DR
- Subjects
- Male, Humans, Aged, beta Catenin genetics, beta Catenin metabolism, Transcriptome, Gene Expression Profiling, Pilomatrixoma pathology, Hair Diseases pathology, Skin Neoplasms pathology
- Abstract
Pilomatricomas (PMs) are common benign adnexal tumors that show a predilection for the head and neck region and are characterized at the molecular level by activating mutations in the beta-catenin (CTNNB1) gene. Giant PMs are a rare histopathological variant, according to the World Health Organization, which are defined by a size greater than 4 cm and are reported to show upregulation of yes-associated protein compared to PMs of typical 1-3 cm size. We describe the case of a 67-year-old man with an 8 cm giant PM involving his temporal scalp, whose PM we characterized by 10X spatial gene expression analysis. This revealed five total transcriptomic clusters, including four distinct clusters within the giant PM, each with a unique transcriptional pattern of hair follicle-related factors, keratin gene expression, and beta-catenin pathway activity., (© 2023 The Authors. Journal of Cutaneous Pathology published by John Wiley & Sons Ltd.)
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- 2023
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26. White hair in alopecia areata: Clinical forms and proposed physiopathologic mechanisms.
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Asz-Sigall D, Ortega-Springall MF, Smith-Pliego M, Rodríguez-Lobato E, Martinez-Velasco MA, Arenas R, Vincenzi C, and Tosti A
- Subjects
- Humans, Hair Follicle pathology, Hair Color, Alopecia Areata, Hair Diseases pathology
- Abstract
Alopecia areata (AA) is a common form of nonscarring hair loss. It is believed to be a consequence of an immune-mediated stimulus, probably involving autoreactive T cells against antigens present in the hair follicle. The exact antigen is still unknown; however, some authors have proposed that melanogenesis-associated molecules might trigger autoimmunity. Although transient white hair regrowth is a common and well-known situation in AA, there are other types of white hair phenomena in this context, including permanent white hair regrowth, sparing of white hair in a patchy pattern, or sparing in a diffuse pattern, giving the appearance of the so-called overnight graying phenomena or canitis subita. In this review, we aim to describe the different clinical aspects of white hair in AA, as well as the proposed pathophysiologic mechanisms involved in this phenomena., (Copyright © 2023. Published by Elsevier Inc.)
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- 2023
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27. Atypical Melanocytic Matricoma: A Case Report with Molecular Studies.
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Feoli F, Stieber D, Bormans A, and Corsten M
- Subjects
- Humans, Immunohistochemistry, Melanocytes pathology, Pilomatrixoma genetics, Pilomatrixoma pathology, Skin Neoplasms genetics, Skin Neoplasms pathology, Neoplasms, Adnexal and Skin Appendage pathology, Hair Diseases genetics, Hair Diseases pathology, Precancerous Conditions pathology
- Abstract
Abstract: Melanocytic matricoma is a rare benign pilar tumor characterized by matrical differentiation and interspersed dendritic melanocytes. It may show cellular atypia and brisk mitotic activity. Histological characterization of some lesions may be difficult. In addition, because the reported cases are few and have limited follow-up, there is insufficient experience to define outcome-based criteria for malignancy. Some cases of melanocytic matricoma with more prominent atypia have been reported as malignant, but their clinical behavior is uncertain. We present a melanocytic matricoma with interspersed benign dendritic melanocytes, but moderate basaloid atypia, focally brisk mitotic activity, and atypical mitoses. Despite the apparently good delimitation of this tumor, higher magnification revealed a slightly irregular border. However, overt malignant features such as necrosis, frank asymmetry, deep infiltration, and ulceration were not present. This tumor showed a complex aberrant genomic profile with multiple whole chromosomes or chromosomal arms, losses, and duplications. The tumor mutational burden was high. A loss-of-function alteration in CDKN2A and a loss-of-function mutation in TP53 were also present. This unexpected molecular profile contrasts with the relatively bland histology of the tumor and is in line with the difficulties in microscopic differential diagnosis between melanocytic matricoma and an indolent malignant pilomatrical tumor. We suggest that molecular studies and longer follow-up periods may help to further understand and more precisely categorize borderline pilomatrical tumors with melanocytic hyperplasia., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2023
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28. Proliferating Pilar Tumors in the Scalp Over a Period of 23 Years in a General Hospital in Mexico City.
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Juan David DO, María de Los Ángeles VA, Claudia Ileana SC, and María Elisa VM
- Subjects
- Humans, Female, Middle Aged, Male, Scalp pathology, Hospitals, General, Mexico epidemiology, Skin Neoplasms surgery, Skin Neoplasms pathology, Hair Diseases pathology, Epidermal Cyst surgery, Precancerous Conditions, Neoplasms, Adnexal and Skin Appendage pathology
- Abstract
Background: Proliferating pilar tumors are an unusual skin tumor, and they have a cystic component with trichilemmal keratinization and epithelial proliferation. These arise from the outer root sheath of hair follicles. It mainly affects women. The scalp is the most affected area. Diagnosis can be made by biopsy. Surgical excision is the best treatment option., Objective: Report the frequency of proliferating pilar tumors in the scalp in general hospital in Mexico over a period of 23 years., Methods: The authors reviewed the database of the dermatopathology service of the General Hospital "Dr Manuel Gea González" from 1999 to August 2022, selecting diagnosticated cases of proliferating pilar tumor, pilar cyst, trichilemmal cyst, or proliferating trichilemmal cyst in the scalp., Results: The authors discovered 17 cases, 13 were women, the average age was 54.9 years, all the tumors affecting the scalp, and just 3 cases were reported as malignant., Conclusion: In comparison with the existing data, the authors can observe that most of their patients were women and the scalp is the most affected area. Most did not present associated symptoms. As the authors can see, most are benign and long-lasting: however, the authors cannot ignore that a small percentage can be malignant., (Copyright © 2023 by the American Society for Dermatologic Surgery, Inc. Published by Wolters Kluwer Health, Inc. All rights reserved.)
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- 2023
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29. Giant proliferating trichilemmal tumour of the scalp.
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Sung KY, Lee S, and Lee SY
- Subjects
- Humans, Scalp pathology, Skin Neoplasms diagnosis, Skin Neoplasms surgery, Skin Neoplasms pathology, Epidermal Cyst pathology, Hair Diseases pathology, Precancerous Conditions pathology
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- 2023
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30. Hedgehog pathway mutations are involved in the pathogenesis of plaque-type "trichoblastoma": A report of two cases.
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Giang J, Mooyaart AL, Martens-de Kemp SR, Jaspars L, Wakkee M, Eijken E, Voogt W, Dinjens WNM, and Damman J
- Subjects
- Humans, Hedgehog Proteins, Mohs Surgery, Mutation, Skin Neoplasms pathology, Hair Diseases pathology
- Abstract
We present two cases of plaque-type trichoblastoma with atypical foci. A rare variant of trichoblastoma is the plaque variant, which is characterized by poor circumscription and locally infiltrative growth pattern. These lesions mostly require multiple stages of Mohs micrographic surgery. Debate still exists whether this variant should be considered as a benign entity or as "low-grade" malignant counterpart of trichoblastoma. In this report we describe two cases of plaque-type trichoblastoma with atypical foci, which harbored somatic mutations in the Hedgehog pathway, thus should be acknowledged as intermediate malignancies. In addition, extensive molecular workup of both the trichoblastic and atypical component in sequential lesions in the same patient was performed., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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- 2023
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31. Melanocytic Matricoma With Atypical Histopathological Features: A Case Report of an Extremely Rare Entity and Review of the Literature.
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Nogales-Moro A, Pinilla-Pagnon I, Silvestre-Torner N, Romero-Jiménez B, García de Casasola-Rodríguez G, and Chao-Crecente M
- Subjects
- Male, Humans, Aged, Hair Follicle pathology, Melanocytes pathology, Hyperplasia pathology, Skin Neoplasms pathology, Pilomatrixoma pathology, Hair Diseases pathology
- Abstract
Abstract: Melanocytic matricoma with atypical features is a rare, biphasic adnexal neoplasm displaying hair matrix differentiation, with only 3 reported cases worldwide. Generally, the lesion comprised a solid matrical and supramatrical cell proliferation, admixed with intermediate cell aggregates with sparse anucleated "shadow cells" and a prominent pigmented melanocytic hyperplasia. We report the case of a 78-year-old man with a slow-growing crusted lesion on the frontal left scalp, which in a matter of 1-2 months became a 0.6 cm well-defined, black purplish exophytic nodule. Histopathologically, the lesion presented a well-circumscribed border with a nodular dermal growth pattern, presenting different architectural features varying from benign pilomatricoma-like changes to atypical features such as moderate-to-high nuclear pleomorphism in both basaloid (matrical/supramatrical) and epidermal (keratinous) components. Strong nuclear and cytoplasmic positivity for β-catenin was observed in matrical cells, whereas prominent cytoplasmic membrane positivity for Melan-A in dendritic melanocytes. Owing to the evidence of atypical cytological features, we propose the "atypical/borderline" category of melanocytic matricoma as part of a possible spectrum among matrical neoplasms. Pathologists should be aware of any atypical histopathological features while reporting cases due to their potential malignant transformation., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2023
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32. Periocular pilomatrixoma in childhood: Clinical feature and differential diagnosis.
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Yang J, Zhao Y, Zhang H, and Wang J
- Subjects
- Child, Humans, Child, Preschool, Diagnosis, Differential, Retrospective Studies, Tomography, X-Ray Computed, Pilomatrixoma diagnosis, Pilomatrixoma surgery, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases diagnosis, Hair Diseases surgery, Hair Diseases pathology
- Abstract
Purpose: To explore the clinical characteristics, imaging features, and differential diagnosis of periocular pilomatrixoma in children and provide evidence for clinical diagnosis and treatment., Methods: Retrospective analysis of the clinical characteristics, preliminary diagnosis, imaging features, treatment, and follow-up of the cases of pediatric periocular pilomatrixoma treated at our hospital., Results: A total of 59 patients from 4 months to 13 years of age (median age 4 years) were collected; 18 cases (30.51%) were misdiagnosed as other diseases in preliminary diagnoses. Seven cases underwent computed tomography (CT) examination, with CT value ranging from 63.4 Hounsfield Units (HU) to 952.0 HU (median value 151.0 HU). Six cases underwent magnetic resonance imaging (MRI) examination; two patients underwent an enhanced scan. The results showed that the rim of the lesion was enhanced, but the contents were not enhanced. All patients underwent surgical treatment. No recurrence was found from 1 month to 5 years of follow-up., Conclusions: Periocular pilomatrixoma is a relatively common tumor in children, which can easily be misdiagnosed clinically as other diseases, such as sebaceous and dermoid cysts. Although not generally recommended, CT can be of significant value in the diagnosis of pilomatrixoma. MRI is of little value in the diagnosis of this disease. If CT images show high or density, the possibility of pilomatrixoma should be considered., (Copyright © 2023 The Author(s). Published by Elsevier Masson SAS.. All rights reserved.)
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- 2023
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33. Trichoblastic carcinosarcoma of the neck: Case report and molecular analysis of a seldom, relapsing entity and a review of the literature.
- Author
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Weiland T, Sadoghi B, Pondorfer P, Kiss P, Brcic I, and Thurnher D
- Subjects
- Male, Humans, Aged, 80 and over, DNA Copy Number Variations, Neoplasm Recurrence, Local diagnosis, Neoplasm Recurrence, Local genetics, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms surgery, Hair Diseases pathology, Carcinosarcoma diagnosis, Carcinosarcoma genetics, Carcinosarcoma surgery, Neoplasms, Basal Cell
- Abstract
Trichoblastic carcinosarcoma is a seldom biphasic adnexal tumor with malignant epithelial and mesenchymal components. The authors report the first tumor on the neck developed from preexistent trichoblastoma showing aggressive, recurrent behavior. An 82-year-old man presented with a solitary 3-cm exophytic lesion. Histology verified the diagnosis of trichoblastic carcinosarcoma. Four years earlier, a trichoblastic carcinoma arising in a preexisting trichoblastoma was excised at the same location. Despite successful surgical treatments, three local recurrences within 4 years were diagnosed. After the second relapse, the patient agreed on adjuvant radiation. Twelve months later, another relapse was excised in toto. In the last surgical specimen, only the mesenchymal component was found. Copy number variation analysis of the preexisting tumor and two recurrences revealed the same entity and additional chromosomal aberrations in the recurrences. Adnexal carcinosarcomas are seldom, yet presumably underdiagnosed biphasic tumors with aggressive growth potential. They should have adequate preoperative clarification with wide tumor excision, as radiosensitivity seems to be of limited effect., (© 2023 The Authors. The Journal of Dermatology published by John Wiley & Sons Australia, Ltd on behalf of Japanese Dermatological Association.)
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- 2023
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34. CTNNB1 -mutated High-grade Endometrioid Carcinoma With Extensive Squamous and Shadow Cell Differentiation Can Mimic Pilomatrix Carcinoma.
- Author
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Mendoza R and Kertowidjojo E
- Subjects
- Female, Humans, Cell Differentiation, beta Catenin genetics, Carcinoma, Endometrioid diagnosis, Carcinoma, Endometrioid genetics, Carcinoma, Endometrioid pathology, Endometrial Neoplasms diagnosis, Endometrial Neoplasms genetics, Endometrial Neoplasms pathology, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms pathology, Hair Diseases pathology, Carcinoma, Squamous Cell
- Abstract
Competing Interests: The authors declare no conflict of interest.
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- 2023
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35. Clinical and dermatoscopic features of temporal triangular alopecia in infants.
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Guan Z, Shi W, Ren M, Bi T, and Su H
- Subjects
- Male, Child, Female, Humans, Infant, Retrospective Studies, Alopecia diagnostic imaging, Alopecia pathology, Hair pathology, Hair Follicle pathology, Dermoscopy methods, Hair Diseases pathology
- Abstract
Objective: To summarize the clinical and dermatoscopic features of temporal triangular alopecia in infants and explore the clinical significance of dermatoscopy in the diagnosis of triangular alopecia temporalis in infants., Methods: A retrospective analysis was performed on 20 children with temporal triangular alopecia diagnosed in the dermatology clinic of Tianjin Children's Hospital from January 2015 to December 2021. Dermatoscopy was performed on all children, and images were collected., Results: The clinical features of 20 children were 15 males and five females, all of which were born immediately after birth; There were eight cases (40%) in the left temporal region, 10 cases (50%) in the right temporal region, one case (5%) in the head region, and one case (5%) in the occipital region; 19 cases were single (95%), one case was multiple (5%); There were 21 skin lesions, 15 triangular lesions (71.4%), four quasi-circular lesions (19%), and two lance-shaped lesions (9.5%). Trichoscopic features: The hair follicle opening in all skin lesions is normal, and the hair follicle opening can be seen with fluffy hair (vellus hair). The vellus hair is evenly distributed, and the length is diverse (both short and long vellus hair exist in the same hair loss area). There are 14 cases of white vellus hair (70%), five cases of white spots (25%), one case of honeycomb pigment pattern (5%), and one case of vascular dilation pattern (5%)., Conclusion: Temporal triangular alopecia in infants has typical clinical and dermatoscopic characteristics, and the dermatoscopy can provide clinical basis for its diagnosis and differential diagnosis., (© 2023 The Authors. Skin Research and Technology published by John Wiley & Sons Ltd.)
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- 2023
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36. Trichoepithelioma on the Finger: A Rare Location and Dermoscopic-Histopathologic Correlation.
- Author
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Mayo-Martínez F, Moro R, Traves V, Llombart B, and Requena C
- Subjects
- Male, Humans, Aged, Hair pathology, Upper Extremity pathology, Fingers pathology, Skin Neoplasms pathology, Hair Diseases pathology
- Abstract
Abstract: Trichoepithelioma is a benign adnexal neoplasm of follicular germinative cells, with bulbs, papillae, and sheaths of perifollicular connective tissue as signs of follicular differentiation. Accordingly, trichoepithelioma may arise in any hair-bearing location, mostly on the face. That is why trichoepithelioma cannot appear in glabrous skin, and, although the dorsum of the hands and feet are a hair-bearing area, acral location is exceptional. We report the first case of trichoepithelioma localized in the finger of a 79-year-old man. It was a brown-pink, firm, 7-mm diameter, solid papule on the dorsal aspect of his left index finger. The lesion was completely asymptomatic, and he remembered to have it for many years. We describe this case highlighting its rare anatomical location and correlate its dermoscopic features with the histopathological appearance., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2023
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37. Association between clinical appearance and histological findings in pilomatricomas.
- Author
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Miida H
- Subjects
- Humans, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases pathology
- Published
- 2023
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38. Pilomatrix Carcinoma: Report of Two Cases of the Head and Review of the Literature.
- Author
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Toffoli L, Bazzacco G, Conforti C, Guarneri C, Giuffrida R, Zelin E, di Meo N, and Zalaudek I
- Subjects
- Middle Aged, Humans, Female, Skin Neoplasms pathology, Bone Neoplasms, Breast Neoplasms, Hair Diseases diagnosis, Hair Diseases pathology, Carcinoma
- Abstract
Background: Pilomatrix carcinoma (PC) is a rare skin tumor arising from hair follicle matrix cells. It is locally aggressive with a high rate of local recurrence after surgical excision. Few cases in the literature have been described and the management is not well defined., Objectives: The aim of this study was to present two cases of PC located on the head and review the relevant literature about epidemiology, clinical and dermoscopic evaluation, characteristics of local and distant metastases, local recurrence rate and management of this rare skin tumor., Methods: We consulted databases from PubMed, Research Gate and Google Scholar, from January 2012 to November 2022. We reviewed the literature and reported two additional cases., Results: We selected 52 tumors in middle-aged to older patients located mostly on the head. Dermoscopy evaluation was rarely performed in the pre-operative diagnostic setting. The most definitive treatment was wide local excision, but local recurrences were common. In total, we observed 11 cases of recurrences and 9 patients with locoregional or distant metastases. Four patients received adjuvant radiotherapy, two patients needed chemotherapy and local cancer therapy and one patient received radiochemotherapy., Conclusion: Our reports and the review of the literature can provide a better awareness and management of this rare tumor.
- Published
- 2023
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39. Calcifying epithelioma of Malherbe - a rare localization.
- Author
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Iqbal B, Putenparampil RA, Kambale T, Dharwadkar A, and Viswanathan V
- Subjects
- Male, Humans, Adult, Pilomatrixoma diagnosis, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms pathology, Carcinoma, Hair Diseases diagnosis, Hair Diseases pathology, Hair Diseases surgery
- Abstract
Calcifying epithelioma of Malherbe, also known as pilomatricoma or pilomatrixoma, mostly arises in the matrix hair follicle. It generally affects the head and neck, upper extremities, and trunk, with the lower extremities being a rare exception. We hereby present a case of a 31-year-old male patient who presented with a small, firm, subcutaneous mass over the left malleolus, which was provisionally diagnosed as lipoma. Surgical excision was performed, and the histopathology report revealed it to be pilomatricoma of the left malleolus.
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- 2023
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40. Pilomatrix Carcinoma-Rare Presentation of an Unusual Cutaneous Malignancy.
- Author
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Anand R, Kanuj M, and Shirley S
- Subjects
- Male, Humans, Middle Aged, Pilomatrixoma pathology, Pilomatrixoma surgery, Bone Neoplasms, Skin Neoplasms pathology, Hair Diseases pathology, Hair Diseases surgery, Carcinoma, Breast Neoplasms
- Abstract
Introduction or Background: Pilomatrix carcinoma is a rare malignant neoplasm arising from the root of hair follicles, with only 150 cases described in the world literature. It is most commonly seen in the head and neck region., Case Presentation: We describe a case of malignant pilomatrix carcinoma in a 62-year-old gentleman presenting as a solitary globular mass over the right anterior chest wall along with a brief review of literature., Discussion and Conclusion: Surgical excision with a wide margin is the current standard of care for chest wall pilomatrix carcinoma and is associated with the least recurrence. Role of radiation as definitive treatment of the primary or as adjuvant therapy has not been clearly established.
- Published
- 2023
41. Commonly Misdiagnosed Facial Lesion: Pilomatricoma.
- Author
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Xin TY, Saniasiaya J, Kulasegarah J, and Fan CS
- Subjects
- Humans, Child, Aged, Biopsy, Diagnostic Errors, Pilomatrixoma diagnosis, Pilomatrixoma surgery, Pilomatrixoma pathology, Hair Diseases diagnosis, Hair Diseases surgery, Hair Diseases pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology
- Abstract
Pilomatricoma, also known as Pilamatrixoma or Malherbe's calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and elderly age groups. Although it was previously thought to be rare, recent studies have revealed that it is quite common. Typically, pilomatricoma is diagnosed following histopathological examination of the lesion as it is frequently misdiagnosed with other types of skin pathology. In our case, the child presented with painless swelling of the left infraauricular region. The initial cytology and imaging were unable to provide a definite diagnosis. An excision biopsy was done, and a histopathological examination was suggestive of Pilomatricoma. Therefore, Pilomatricoma ought to be considered in the differential diagnosis of head and neck lesions in hopes of providing a better understanding on this pathological lesion.
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- 2023
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42. Pilomatricoma of the thigh: a case report.
- Author
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Benhamou RA, Kharbouch M, Tazi H, Basri Z, Lakhdari MA, Kenza O, and Omari ME
- Subjects
- Humans, Thigh, Diagnosis, Differential, Pilomatrixoma diagnosis, Pilomatrixoma surgery, Pilomatrixoma pathology, Skin Neoplasms diagnosis, Skin Neoplasms surgery, Skin Neoplasms pathology, Hair Diseases diagnosis, Hair Diseases surgery, Hair Diseases pathology, Carcinoma diagnosis
- Abstract
Pilomatricoma, formerly known as calcifying epithelioma of Malherbe, is a rare, benign, annexic skin tumor developed from the cells of the pilar matrix. The cure without recurrence is the rule after complete surgical excision. Clinical diagnosis is challenging. Actually, differential diagnosis include malignant pilomatricoma or trichomatrical carcinoma with significant aggressive potential. However, the diagnosis of pilomatricoma must remain clinical and be confirmed histologically. We report the rare case of a pilomatricoma, in an unusual location in the thigh., Competing Interests: The authors declare no competing interests., (Copyright: Rita Ait Benhamou et al.)
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- 2022
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43. Melanocytic matricoma: a rare tumor that can mimic melanoma.
- Author
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Aranguren-López I, Ibarbia-Oruezabal S, and Segués-Merino N
- Subjects
- Biomarkers, Tumor, Humans, Melanocytes pathology, Hair Diseases pathology, Melanoma diagnosis, Melanoma pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology
- Published
- 2022
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44. Melanocytic matricoma with atypical features: A case of malignant melanocytic matricoma?
- Author
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Melson GJ, Hong SG, and Brem CE
- Subjects
- Male, Female, Humans, Aged, 80 and over, Melanocytes pathology, Pilomatrixoma pathology, Hair Diseases pathology, Skin Neoplasms pathology, Neoplasms, Adnexal and Skin Appendage pathology
- Abstract
Melanocytic matricoma is a rarely reported, benign cutaneous adnexal neoplasm composed of epithelial cells exhibiting differentiation towards hair matrix as well as admixed, pigmented, dendritic melanocytes. The proposed malignant counterpart to melanocytic matricoma, malignant melanocytic matricoma (MMM), is even more rare. Here we report a case of a melanocytic matricoma with atypical features in a 92-year-old female with a 1.2-cm pigmented nodule on the right nasal sidewall. Histopathology revealed a well-circumscribed dermal tumor composed of atypical matrical cells with scattered aggregates of anucleate keratinocytes (ghost cells), prominent intratumoral pigment, numerous mitotic figures (88 mitosis/10 high-power field [HPF]), and intermixed dendritic melanocytes. A literature review was performed for MMM to determine if the current case fit diagnostic criteria for this entity. Including the current case, 12 cases of MMM were identified and analyzed to investigate common clinical and histopathologic features. MMM commonly occurred on the head and neck (7/12 cases) of older individuals (median age of 80) with a slight male predominance (male-to-female ratio of 3:1) and on histopathology presented as a multinodular dermal tumor composed of mitotically active (average mitotic rate of >50 mitoses/10 HPF) pleomorphic epithelial cells with foci of ghost cells. Dendritic melanocytes were found throughout the tumor lobules in all cases. Given that only two of 12 cases have exhibited locally aggressive behavior, further study is warranted to determine the true malignant potential of MMM., (© 2022 Japanese Dermatological Association.)
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- 2022
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45. Anetodermic pilomatricoma: A clinical, histopathological and dermoscopic perspective.
- Author
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Dev A, Vinay K, Chatterjee D, and Parsad D
- Subjects
- Humans, Dermoscopy, Pilomatrixoma diagnostic imaging, Pilomatrixoma pathology, Hair Diseases diagnostic imaging, Hair Diseases pathology, Skin Neoplasms diagnostic imaging, Skin Neoplasms surgery, Skin Neoplasms pathology
- Published
- 2022
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46. Association of trichilemmal and basal cell carcinomas: a case report.
- Author
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Mekkaoui ME, Dani B, Amraoui O, Bencheikh R, Benbouzid A, Oujilal A, Essakalli L, Elouazzani H, Boujida I, and Cherradi N
- Subjects
- Humans, Aged, Hair Follicle pathology, Carcinoma, Basal Cell diagnosis, Carcinoma, Basal Cell surgery, Carcinoma, Basal Cell pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Skin Diseases pathology, Hair Diseases pathology
- Abstract
Proliferating trichilemmal tumor (PTT) is a benign tumor arising from the isthmic portion of the hair follicle. Malignant transformation in PPT is very rare and unusual. Indeed, only about sixty well-documented cases have been found in the English literature. We present here the case of a 72-year-old patient with an exceptional combination of malignant trichilemmal carcinoma and basal cell carcinoma, occurring on actinic keratosis lesions. The aim of this work is to describe the diagnostic and therapeutic modalities of this association which is exceptional., Competing Interests: The authors declare no competing interests., (Copyright: Moad El Mekkaoui et al.)
- Published
- 2022
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47. Pilomatrix Carcinoma In A 4-Year-Old Child With An Unusual Presentation.
- Author
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Naveed H, Yaqoob N, Muhammad S, Aftab K, and Raza MR
- Subjects
- Male, Humans, Child, Preschool, Epithelial Cells pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Hair Diseases diagnosis, Hair Diseases pathology, Pilomatrixoma diagnosis, Pilomatrixoma surgery, Pilomatrixoma pathology, Carcinoma pathology, Bone Neoplasms, Breast Neoplasms
- Abstract
Pilomatrix carcinoma is a rare, locally aggressive variant of pilomatrixoma with a high rate of recurrence and risk of distant metastasis. We report an unusual presentation of a pilomatrix carcinoma in a 4-year-old male child who presented with recurrent lesions on his left cheek. At the age of 1 month of life, he presented with a soft tissue swelling on his left cheek. The lesion showed a circumscribed proliferation of basaloid cells with central areas of eosinophilic ghost shadow cells and intermediate cells. Basaloid nests showed round to oval, hyperchromatic nuclei with open nuclear chromatin, prominent nucleoli and frequent mitoses but no marked nuclear pleomorphism or infiltration was identified. The lesion recurred twice at the same site. Both recurrences showed similar morphology as the primary tumour however there were extensive areas of stromal necrosis, infiltrating edges, frequent mitoses with atypical forms, and lymphovascular invasion. There was no marked nuclear pleomorphism. Morphological features favoured a diagnosis of pilomatrix carcinoma. The child is still on follow-up and no recurrence has been identified to date. Pilomatric carcinoma is rarely reported in infants. Due to its rarity, aggressive histological features may be missed.
- Published
- 2022
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48. A newly growing asymptomatic facial lesion.
- Author
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Butt S, Evans A, Green C, and Affleck A
- Subjects
- Adult, Cheek pathology, Diagnosis, Differential, Humans, Male, Young Adult, Hair Diseases pathology, Pilomatrixoma diagnosis, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Skin Neoplasms surgery
- Abstract
A 23-year-old man presenting with a 1-year history of a lesion of the right cheek. We highlight this case for awareness as this tumour may mimic other benign lesions, such as pilomatrixoma or benign cysts, as it does not have any uniquely identifying clinical or dermoscopic features. Additionally, it is of concern as malignant transformation can occur and therefore surgery should be considered as both for diagnostic and therapeutic benefit., (© 2022 British Association of Dermatologists.)
- Published
- 2022
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49. Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
- Author
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Russell-Goldman E, Dong F, and Hanna J
- Subjects
- Hair Follicle pathology, Humans, Mutation, PTEN Phosphohydrolase genetics, Hair Diseases genetics, Hair Diseases pathology, Hamartoma Syndrome, Multiple genetics, Hamartoma Syndrome, Multiple pathology, Protein Tyrosine Phosphatases, Non-Receptor genetics, Skin Neoplasms enzymology, Skin Neoplasms genetics, Skin Neoplasms pathology
- Abstract
Abstract: Trichilemmoma is a benign cutaneous neoplasm that recapitulates the outer root sheath of the hair follicle. Trichilemmomas may occur sporadically or in association with Cowden syndrome, which is characterized by germline mutations in the lipid phosphatase PTEN (phosphatase and tensin homolog on chromosome 10). Interestingly, most sporadic trichilemmomas do not show PTEN aberrations, but rather activating mutations in HRAS. Despite these important advances, a comprehensive genetic analysis of trichilemmoma has not been reported. Here, we used a next-generation DNA sequencing platform to study 9 sporadic trichilemmoma cases. Seven cases (7/9; 78%) harbored activating mutations in HRAS, consistent with previous findings. Unexpectedly, we identified recurrent mutations in the tyrosine phosphatase PTPN14 (protein tyrosine phosphatase nonreceptor type 14) in 4 cases (4/9; 44%). Three of these cases also harbored HRAS mutations, whereas one case occurred in the absence of a HRAS mutation and showed evidence of biallelic inactivation of PTPN14. Finally, one case (1/9; 11%) showed biallelic inactivation of PTEN in the absence of a HRAS (or PTPN14) mutation. These data suggest at least 3 distinct pathways of molecular pathogenesis in sporadic trichilemmoma and identify PTPN14 as a potentially important contributor to trichilemmoma biology., Competing Interests: J. Hanna has disclosed that he is a recipient of research funding from the Bertarelli Rare Cancers Fund. Lippincott CME Institute has identified and resolved all conflicts of interest concerning this educational activity., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
50. Not just acne or keratosis pilaris-like eruption: A case of trichodysplasia-associated polyomavirus in a child with lymphoma.
- Author
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Naeem F, Davis AW, Sukumaran S, and Fernández KS
- Subjects
- Abnormalities, Multiple, Child, Eyebrows abnormalities, Humans, Acne Vulgaris complications, Darier Disease complications, Hair Diseases etiology, Hair Diseases pathology, Lymphoma complications, Polyomavirus, Polyomavirus Infections complications, Polyomavirus Infections pathology
- Published
- 2022
- Full Text
- View/download PDF
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