426 results on '"Hair Diseases pathology"'
Search Results
2. Possible new defining presentation of mosaic tetrasomy 9p: multiple and recurrent pilomatrixoma.
- Author
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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.
- Published
- 2024
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3. Dermotoscope assisted diagnosis of adolescent bullous pilomatricoma: six case reports.
- Author
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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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4. Pilomatrix Carcinoma: A Retrospective Chart Review of 17 Patients.
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Amin M, Kneiber D, Cassarino D, and Eisen DB
- Subjects
- 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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5. 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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6. Post-traumatic Bullous Pilomatrixoma Exploring the Pathogenesis.
- Author
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Martínez-Ortega JI, Ortega-Valerio G, and Ramirez-Cibrian AG
- Subjects
- 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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7. Increasing the Awareness of Pilomatricoma in the Preauricular Area.
- Author
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Jeong J and Kim EK
- Subjects
- 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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8. 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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9. 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
- Subjects
- 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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10. 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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11. A Retrospective Study of the Clinicopathological Characteristics of Approximately 1,600 Pilomatricomas Treated at a Single Institution.
- Author
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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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12. 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
- Subjects
- 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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13. Clinical and Pathological Features of Pilomatrixoma in Children: A Retrospective Study.
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Fu H, Shen C, Wu B, Wang T, Wu J, Li Y, Ding J, and Gao J
- Subjects
- 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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14. Surgical experiences in pediatric pilomatricoma: punch incision and elliptical excision.
- Author
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Choi H, Shim DH, Na CH, Shin BS, and Kim MS
- Subjects
- 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.
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- 2023
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15. Childhood pilomatrixoma mimicking malignant small round blue cell tumor with positivity for CD99: Potential pitfall in cytology.
- Author
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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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16. Spatial transcriptomics of a giant pilomatricoma.
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Patil AT, Bennett DD, Xu J, Weisman P, and Matson DR
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- 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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17. Atypical Melanocytic Matricoma: A Case Report with Molecular Studies.
- Author
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Feoli F, Stieber D, Bormans A, and Corsten M
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- 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.)
- Published
- 2023
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18. 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.)
- Published
- 2023
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19. 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.)
- Published
- 2023
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20. Association between clinical appearance and histological findings in pilomatricomas.
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Miida H
- Subjects
- Humans, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases pathology
- Published
- 2023
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21. Calcifying epithelioma of Malherbe - a rare localization.
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Iqbal B, Putenparampil RA, Kambale T, Dharwadkar A, and Viswanathan V
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- 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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22. Pilomatrix Carcinoma-Rare Presentation of an Unusual Cutaneous Malignancy.
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Anand R, Kanuj M, and Shirley S
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- 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
23. Commonly Misdiagnosed Facial Lesion: Pilomatricoma.
- Author
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Xin TY, Saniasiaya J, Kulasegarah J, and Fan CS
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- 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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24. Pilomatricoma of the thigh: a case report.
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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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25. Melanocytic matricoma with atypical features: A case of malignant melanocytic matricoma?
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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.)
- Published
- 2022
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26. 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
- Full Text
- View/download PDF
27. 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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28. 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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29. Bilateral Cervical Pilomatricoma: A Diagnostic Dilemma for the Pediatric Otolaryngologist.
- Author
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Rossi NA, Gietzen R, Clement CG, Ohlstein JF, Pine HS, Szeremeta W, McKinnon BJ, and Daram S
- Subjects
- Child, Humans, Otolaryngologists, Skin pathology, Hair Diseases diagnosis, Hair Diseases pathology, Hair Diseases surgery, Pilomatrixoma diagnosis, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Skin Neoplasms surgery
- Abstract
Pilomatricomas are benign skin tumors often encountered by otolaryngologists but frequently misdiagnosed. Although they can occur at any age, they commonly present in children as a discolored superficial lesion adhered to the overlying skin. Accurate preoperative diagnosis is crucial for appropriate management, which is surgical in most cases. Here, we present bilateral pilomatricomas mimicking features of several other diagnoses in a pediatric patient. The patient was successfully treated with surgical excision. This case presented a unique diagnostic challenge, as the lesions exhibited features of several common diagnoses. In general, surgical management of pilomatricoma is curative, and recurrence is rare.
- Published
- 2022
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30. Melanocytic matricoma: A report of three cases, review of the literature, and suggestion of a new terminology.
- Author
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Ferrier M and Husain A
- Subjects
- Aged, Humans, Melanocytes pathology, Hair Diseases pathology, Neoplasms, Adnexal and Skin Appendage pathology, Pilomatrixoma pathology, Skin Neoplasms pathology
- Abstract
Melanocytic matricoma is a rare, biphasic adnexal tumor. It typically presents as a pigmented papule on the sun-damaged skin of elderly patients. Histopathology shows a dermal nodule composed of basaloid cells, ghost cells, and deeply pigmented dendritic melanocytes. The basaloid cells are usually positive for β-catenin and these tumors show overlapping histopathological and molecular features with pilomatricoma. Here, we review the literature on melanocytic matricoma and present three new cases. We suggest different terminology to reflect the overlapping features with pilomatricoma that recognizes that melanocytic matricoma is likely to be a variant of pilomatricoma associated with melanocytic hyperplasia. Although melanocytic matricoma is usually considered benign, malignant transformation has been reported. This highlights the need for increased awareness of this entity., (© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2022
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31. Pilomatricoma with florid ossification: A rare feature in a common tumor.
- Author
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Sathe PA and Agnihotri MA
- Subjects
- Humans, Osteogenesis, Hair Diseases diagnosis, Hair Diseases pathology, Hair Diseases surgery, Pilomatrixoma diagnosis, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms diagnosis, Skin Neoplasms pathology
- Abstract
Competing Interests: None
- Published
- 2022
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32. Pilomatrical Acanthoma: An Extremely Rare Intraepidermal Variant of Pilomatricoma.
- Author
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He L and Hosler GA
- Subjects
- Aged, Humans, Acanthoma, Hair Diseases pathology, Hair Diseases surgery, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms pathology, Sweat Gland Neoplasms
- Abstract
Abstract: Pilomatrical differentiation can be observed in a variety of benign and malignant tumors, with the most common prototype being pilomatricoma. Pilomatricoma often presents in the deep dermis or subcutis, and the sole involvement of epidermis is extremely rare. In our current case series, specimens from 5 patients were included with an average age of 68 years. All lesions presented as solitary verrucous or keratotic papules on the extremities, with 1 lesion having a prominent horn. All lesions have a variable mixture of basaloid matrical cells and shadow cells, and all lesions express β-catenin (strong nuclear and cytoplasmic), lymphoid enhancer-binding factor 1 within the matrical component, and pleckstrin homology-like domain family A member 1. The histomorphology and immunoprofile of all lesions are of pilomatrical differentiation, confined to the level of the epidermis. Based on these findings and analogous to the terminology used for other benign intraepidermal proliferations (hidroacanthoma simplex and epidermolytic acanthoma), we propose the term "pilomatrical acanthoma" for these rare lesions., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2022
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33. Melanocytic Panfolliculoma: A Case Report of a Rare Benign Follicular Tumor.
- Author
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Preston A, West C, McCollough M, and Hosler GA
- Subjects
- Aged, 80 and over, Diagnosis, Differential, Forearm, Hair Diseases pathology, Humans, Male, Pilomatrixoma pathology, Skin Neoplasms pathology, Hair Diseases diagnosis, Melanocytes pathology, Pilomatrixoma diagnosis, Skin Neoplasms diagnosis
- Abstract
Abstract: Panfolliculomas (PF) are rare, benign, follicular tumors that differentiate toward multiple components of the hair follicle, and several variants have been described. We present a case of a rare pigmented PF presenting on actinically damaged skin in an 83-year-old man, which was clinically concerning for malignancy. This tumor arose near an area of atypical squamous proliferation and has evidence of infundibular, outer root sheath, and matrical differentiation and foci of heavy melanin pigmentation and increased melanocytes. We propose the novel designation of "melanocytic PF," akin to melanocytic matricoma but with panfollicular differentiation., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
34. A 5-year retrospective review of skin adnexal tumours received at a tertiary dermatopathology service: implications for linked genetic diagnoses.
- Author
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Cook S, Bajwa D, Hollestein L, Husain A, and Rajan N
- Subjects
- Adult, Child, Female, Hair Follicle pathology, Humans, Infant, Male, Retrospective Studies, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms diagnosis, Skin Neoplasms genetics, Skin Neoplasms pathology
- Abstract
Background: Skin adnexal tumours (SATs) comprise a diverse range of neoplasms, which are difficult to diagnose clinically. They present in paediatric and adult populations, and may be indicative of an underlying genetic syndrome. There is a lack of recent data on the presentation of these tumours in clinical practice in European populations., Objectives: To characterize the clinical and pathological features of SATs received at a single tertiary centre over a 5-year period., Methods: A retrospective health record audit of SATs received at the Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, during the period November 2012 to October 2017 was performed., Results: In total, 107 144 skin cases were received during the audit period. A total of 1615 cases of SATs from 1359 patients were included; 1570 (97·2%) were benign and 45 (2·8%) were malignant. Overall, the average age at presentation was 55 years (range 11 months to 97 years) and the male to female ratio was 0·77 : 1. Sweat gland and hair follicle SATs were most frequently excised; in adults, the most frequent tumour was hidrocystoma, and in children, pilomatrixoma occurred most often. Prebiopsy diagnosis was correct in 28% of cases. Benign SATs are often markers of an associated genetic condition, which warrants improved discrimination of sporadic from genetically related SATs., Conclusions: SATs are difficult to diagnose clinically, and clinicopathological correlation may help enhance discrimination of genetically related SATs from sporadic cases. These data have implications for clinical and dermatopathological training provision, the development of reporting standards, and genetic assessment of selected patients., (© 2021 British Association of Dermatologists.)
- Published
- 2022
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35. Dermoscopic Differentiation of Pilomatricoma From Pilomatrical Carcinoma.
- Author
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Popadić M and Brasanac D
- Subjects
- Child, Diagnosis, Differential, Female, Humans, Dermoscopy, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms pathology
- Published
- 2021
- Full Text
- View/download PDF
36. Vulvar Pilomatrix Carcinoma: Morphologic and Molecular Features.
- Author
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Bueno D, Caniego-Casas T, Sánchez-Martínez MC, Saavedra-Serrano C, Palacios J, and Pérez-Mies B
- Subjects
- Diagnosis, Differential, Female, Hair Diseases genetics, Hair Diseases pathology, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Pilomatrixoma genetics, Pilomatrixoma pathology, Sequence Analysis, DNA, Skin Neoplasms genetics, Skin Neoplasms pathology, Vulva pathology, Vulvar Neoplasms genetics, Vulvar Neoplasms pathology, Hair Diseases diagnosis, Pilomatrixoma diagnosis, Skin Neoplasms diagnosis, Vulvar Neoplasms diagnosis, beta Catenin genetics
- Abstract
Pilomatrix carcinoma (PC) is a rare malignant variant of pilomatrixoma, a skin adnexal tumor originating from hair matrix cells. It is most often located in the head, neck region, upper back and upper extremities. PC has a locally aggressive behavior but metastasis only occur in 10% of cases. Mutations in CTNNB1, the encoding gene of beta-catenin, have been found in both pilomatrixoma and PC, but other molecular alterations are unknown. The authors present a case of PC in the clitoris, the third known reported case located on the external genitalia. The tumor followed an unusual clinical course with the development of multiple metastases. Next-generation sequencing analysis of the tumor identified, in addition to a characteristic CTNNB1 mutation, pathogenic mutations in PTEN, PIK3CA, and ARID1A, which could explain the aggressive course of the disease. The diagnostic criteria of PC and the differential diagnoses of this unusual tumor in the genital area are discussed., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 by the International Society of Gynecological Pathologists.)
- Published
- 2021
- Full Text
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37. Pilomatricoma with florid osseous metaplasia: A common tumor with rare histopathological finding.
- Author
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Bharti S, Nalwa A, Rajendran M, Rao M, and Elhence PA
- Subjects
- Adolescent, Adult, Cell Differentiation, Child, Diagnosis, Differential, Epidermal Cyst diagnosis, Female, Fibrous Dysplasia of Bone complications, Follow-Up Studies, Head pathology, Humans, Male, Middle Aged, Neck pathology, Osteomyelitis complications, Photomicrography methods, Pilomatrixoma complications, Pilomatrixoma surgery, Treatment Outcome, Hair Diseases pathology, Metaplasia pathology, Pilomatrixoma diagnosis, Skin Neoplasms pathology
- Abstract
Pilomatricoma, also known as calcifying epithelioma of Malherbe, is a common benign skin adnexal tumor with differentiation toward hair cortex cells, commonly seen in head and neck region of children. It is usually solitary. Herein, we present a rare case of pilomatricoma with extensive osseous metaplasia as a thigh swelling in an adult female, considered clinically to be a sebaceous cyst. Florid osseous metaplasia is extremely rare in cases of pilomatricoma. To date, fewer than 10 cases of pilomatricoma with extensive osseous metaplasia at different sites have been reported in the English literature., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2021
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38. Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.
- Author
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Liu K, Luo J, Ma T, Fang M, Xu Z, Wang L, Zhang XY, Wen J, Liu C, Cao Y, Li X, Zhang L, Guo A, Wang N, Yi P, and Liu JY
- Subjects
- Animals, DNA Mutational Analysis, Disease Models, Animal, Female, Germ-Line Mutation, Hair Diseases pathology, Humans, MAP Kinase Signaling System genetics, Male, Mice, Transgenic, Middle Aged, Mitogen-Activated Protein Kinase 1 metabolism, Mitogen-Activated Protein Kinase 3 metabolism, Mutation, Missense, Pedigree, Pilomatrixoma pathology, Protein Kinase C metabolism, Skin pathology, Skin Neoplasms pathology, Calcium Channels metabolism, Hair Diseases genetics, Phospholipase C delta genetics, Pilomatrixoma genetics, Skin Neoplasms genetics, TRPV Cation Channels metabolism
- Abstract
Pilomatricoma, a benign skin appendage tumor, also known as calcifying epithelioma, consists of islands of epithelial cells histologically that contain anucleated cells in the center surrounded by basophilic cells and partial calcification. Sporadic pilomatricomas commonly have somatic mutations in the gene CTNNB1, but causative genes from germline and the underlying pathophysiology are unclear. In this study, we identified a germline missense variant of PLCD1 encoding PLCδ1, c.1186G>A (p.Glu396Lys), in a large Chinese family with autosomal dominant multiple pilomatricomas. Phospholipase C, a key enzyme playing critical roles in intracellular signal transduction, is essential for epidermal barrier integrity. The p.Glu396Lys variant increased the enzymatic activity of PLCδ1, leading to protein kinase C/protein kinase D/extracellular signal-regulated kinase1/2 pathway activation and TPRV6 channel closure, which not only resulted in excessive proliferation of keratinocytes in vitro and in vivo but also induced local accumulation of calcium in the pilomatricoma-like tumor that developed spontaneously in the skin of Plcd1
E396K/E396K mice. Our results implicate this p.Glu396Lys variant of PLCD1 from germline leading to gain-of-function of PLCδ1 as a causative genetic defect in familial multiple pilomatricomas., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)- Published
- 2021
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- View/download PDF
39. Pilomatrical Tumor of Low Malignant Potential: A Tumor Between Pilomatricoma and Pilomatrical Carcinoma.
- Author
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Collina G, Filosa A, and Requena L
- Subjects
- Carcinoma classification, Carcinoma surgery, Female, Hair Diseases classification, Hair Diseases surgery, Humans, Margins of Excision, Middle Aged, Neoplasm Recurrence, Local, Pilomatrixoma classification, Pilomatrixoma surgery, Skin Neoplasms classification, Skin Neoplasms surgery, Terminology as Topic, Treatment Outcome, Carcinoma pathology, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms pathology
- Abstract
Abstract: We report a case of pilomatrical tumor showing intermediate histological features between pilomatricoma and pilomatrical carcinoma. The lesion recurred twice with the same histological features. Similar cases were was probably called aggressive or proliferating pilomatixoma; we think that the term pilomatrical tumor of low malignant potential is more suitable for this lesions. Excision with wide free margins and follow-up are recommended., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
40. Pseudocystic pilomatricoma: A new variant and review of the literature.
- Author
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Sung KY, Lee S, Jeong Y, and Lee SY
- Subjects
- Child, Preschool, Extremities pathology, Extremities surgery, Female, Hair Diseases diagnostic imaging, Hair Diseases surgery, Humans, Pilomatrixoma diagnostic imaging, Pilomatrixoma surgery, Skin Neoplasms diagnostic imaging, Skin Neoplasms surgery, Ultrasonography, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms pathology
- Abstract
A classic pilomatricoma, which usually presents with an asymptomatic, solitary, firm, subcutaneous nodule in the head, neck, or extremities of the paediatric population, is easily diagnosed based on its characteristic clinical and histopathological features. However, its variants often pose particular diagnostic challenges to clinicians due to their rarity and diverse clinicopathological features. We present a new pseudocystic variant, manifesting as solid lesions floating in a fluid-filled sac., (© 2020 The Australasian College of Dermatologists.)
- Published
- 2021
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- View/download PDF
41. Pilomatrixoma: a common tumour of head and neck, but rarely reported.
- Author
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Veena KM and Chandra J
- Subjects
- Adult, Calcinosis pathology, Female, Hair Diseases pathology, Hair Diseases surgery, Head and Neck Neoplasms pathology, Head and Neck Neoplasms surgery, Humans, Pilomatrixoma pathology, Pilomatrixoma surgery, Skin Neoplasms pathology, Skin Neoplasms surgery, Tomography, X-Ray Computed, Calcinosis diagnostic imaging, Hair Diseases diagnostic imaging, Head and Neck Neoplasms diagnostic imaging, Pilomatrixoma diagnostic imaging, Skin Neoplasms diagnostic imaging
- Abstract
Pilomatrixoma is a benign subcutaneous tumour arising from the sebaceous glands. Mutation in the CTNNB1 gene is seen, suggesting beta-catenin misregulation may be the cause of pilomatrixoma. The preoperative diagnosis may be improved by the awareness of the fact that pilomatrixoma is a common and benign skin tumour of the head and neck region. It presents as a well-defined mass, which may be firm to hard in consistency, usually attached to the skin, but not to the underlying tissue. The colour of overlying skin appears a reddish-brown tinge, indicating that it could be a case of pilomatrixoma. Here, we report a case of pilomatrixoma of the cheek in a woman along with the CT findings and histopathological appearances. Dental surgeons should consider it as one of the differential diagnosis in superficial head and neck swelling with calcification., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2021
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42. Common sense and tumor treatment. A case of pilomatrical carcinoma in a 21-year-old patient with surprisingly rapid tumor progression.
- Author
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Nogal P, Bartkowiak E, Iwanik K, and Wierzbicka M
- Subjects
- Dimethyl Sulfoxide administration & dosage, Dimethyl Sulfoxide adverse effects, Disease Progression, Hair Diseases pathology, Humans, Laser Therapy, Male, Parotid Gland surgery, Parotid Neoplasms pathology, Pilomatrixoma pathology, Plaque, Atherosclerotic diagnosis, Plaque, Atherosclerotic therapy, Skin Neoplasms pathology, Surgical Wound therapy, Time Factors, Tumor Burden, Young Adult, Hair Diseases surgery, Parotid Neoplasms surgery, Pilomatrixoma surgery, Skin Neoplasms surgery
- Abstract
Pilomatrical carcinoma is a rare tumor originating from skin appendages, usually occurring between the 5th and 7th decade of life. We present a case of an exceptionally young, 21-year-old patient with surprisingly rapid tumor progression and answer the question, what was the reason for such uncontrolled tumor growth. The main concern is the diagnostic challenge and a peculiar, one week race against time and tumor progression so that the least disfiguring surgery could be done., (Copyright © 2020 Elsevier Ltd. All rights reserved.)
- Published
- 2021
- Full Text
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43. Multiple eruptive pilomatricomas in a young woman with glioblastoma multiforme.
- Author
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Harshatha S, Sivayogana R, Manuel A, and Murugans S
- Subjects
- Female, Hair Diseases pathology, Humans, Neoplasms, Multiple Primary pathology, Pilomatrixoma pathology, Skin Neoplasms pathology, Young Adult, Brain Neoplasms complications, Glioblastoma complications, Hair Diseases complications, Pilomatrixoma complications, Skin Neoplasms complications
- Published
- 2021
- Full Text
- View/download PDF
44. Comparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing.
- Author
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Yeo MK and Bae GE
- Subjects
- Biomarkers, Tumor genetics, Case-Control Studies, Exome, Hair Diseases genetics, Humans, Pilomatrixoma genetics, Prognosis, Skin Neoplasms genetics, Exome Sequencing, Wnt Signaling Pathway, Gene Expression Regulation, Neoplastic, Hair Diseases pathology, Mutation, Pilomatrixoma pathology, Receptor, Fibroblast Growth Factor, Type 4 genetics, Skin Neoplasms pathology, beta Catenin genetics
- Abstract
Background: Malignant pilomatricoma (MP) is a rare cancer of the hair matrix with only a few cases reported in literature. Given the rarity of this cancer and the lack of relevant genetic data, very little is known about the nature of the molecular pathophysiology except the involvement of the Catenin Beta 1 (CTNNB1)/Wnt/β-catenin signaling pathway in some cases., Materials and Methods: We describe the whole-exome genomic profiling of four samples from two patients: 1) an MP from patient I, 2) a coexisting benign pilomatricoma (BP) from patient I, 3) a BP from an age and location-matched control patient II, and 4) normal skin tissue from patient II., Results: We detected a pathogenic somatic missense mutation in fibroblast growth factor receptor 4 (FGFR4) (c.1162G>A, p. Gly388Arg) in MP and coexisting BP in patient I, whereas the control BP harbored the classical CTNNB1 mutant., Conclusion: This study, the first comparative analysis of benign and MP through whole-exome analysis, identified a novel oncogenic mutation in FGFR4., (Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)
- Published
- 2020
- Full Text
- View/download PDF
45. Immunohistochemical Localization of Phosphorylated and Unphosphorylated Form of β-catenin With Regard to Shadow Cell and Squamous Differentiation in Cutaneous Pilomatricoma.
- Author
-
Nakamura T and Fujiwara M
- Subjects
- Biomarkers, Tumor metabolism, Cell Death physiology, Cell Differentiation physiology, Epithelial Cells metabolism, Epithelial Cells pathology, Hair Diseases metabolism, Humans, Immunohistochemistry, Phosphorylation, Pilomatrixoma metabolism, Skin Neoplasms metabolism, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms pathology, beta Catenin metabolism
- Abstract
Pilomatricoma usually contains a mutation in CTNNB1 that encodes β-catenin (BC). It also shows nuclear accumulation of BC protein, which plays an important role in tumorigenesis of pilomatricoma. In vitro studies have indicated that mutant BC protein is unphosphorylated and shows nuclear accumulation, but this theory has not been confirmed in various tumors with CTNNB1 mutation. We examined immunohistochemical localization of phosphorylated BC (pBC) and unphosphorylated BC (npBC) with regard to the modes of cell death or differentiation in 25 cases of pilomatricoma. As for the component showing shadow cell differentiation, BC was detected in cytoplasm/nucleus and along cell membrane in basaloid cells, whereas only in the latter in transitional cells in all cases. Meanwhile, npBC was localized along cell membrane of transitional cells, but not in basaloid cells, nor in nucleus of any components. The components with squamous differentiation also revealed the staining patterns similar to those seen in shadow cell differentiation in some cases. pBC was found in some cell fragments in the amorphous debris containing apoptotic bodies among shadow cell nests. These results suggested that npBC plays an important role in cell adhesion during differentiation and that pBC expression is associated with apoptosis of basaloid cells in pilomatricoma. BC accumulated in the nucleus was not immunoreactive for npBC possibly due to post-translational modification or conformational changes that resulted in loss of or masked antigenicity when BC is assumed to be unphosphorylated.
- Published
- 2020
- Full Text
- View/download PDF
46. Giant pilomatrixoma: a distinctive clinical variant: a new case and review of the literature.
- Author
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Sabater-Abad J, Matellanes-Palacios M, Bou-Boluda L, Campos-Dana JJ, Alemany-Monraval P, and Millán-Parrilla F
- Subjects
- Diagnosis, Differential, Epidermis pathology, Humans, Male, Middle Aged, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms pathology
- Abstract
Pilomatrixoma is a benign adnexal tumor very common in pediatric age and in young adults that derives from follicular matrix cells. Although clinically it usually presents as a subcutaneous nodule of bluish color less than 3cm in size, multiple clinicopathological variants have been described in the literature. Among these we can find the giant pilomatrixoma, a rare clinical variant that reaches a size greater than or equal to 4cm and can simulate the clinical presentation of a malignant neoplasm. We report a 59-year-old man with an exophytic and ulcerated nodule in the left parotid region that was removed with the suspected diagnosis of a cutaneous squamous cell carcinoma. Histopathological analysis showed a proliferation of basaloid cells with areas of transition to ghost cells, under granulation tissue, hemorrhage, and an ulcerated epidermis. Thus, the diagnosis of giant pilomatrixoma was made. We reviewed the literature and found a total of 53 articles that report a total of 71 cases of giant pilomatrixoma. It is important to recognize this clinical subtype of pilomatrixoma because, apart from the possibility of being clinically confused with malignant lesions, the clinicopathological differential diagnosis must be made with the proliferating pilomatrixoma and pilomatrixcarcinoma.
- Published
- 2020
47. A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
- Author
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Heddar A, Beckers D, Fouquet B, Roland D, and Misrahi M
- Subjects
- Adolescent, Adult, Biomarkers analysis, Child, Female, Follow-Up Studies, Growth Disorders complications, Growth Disorders genetics, Hair Diseases complications, Hair Diseases genetics, Homozygote, Humans, Middle Aged, Pedigree, Phenotype, Pilomatrixoma complications, Pilomatrixoma genetics, Primary Ovarian Insufficiency complications, Primary Ovarian Insufficiency genetics, Prognosis, Skin Neoplasms complications, Skin Neoplasms genetics, Young Adult, Growth Disorders pathology, Hair Diseases pathology, Minichromosome Maintenance Proteins genetics, Mutation, Pilomatrixoma pathology, Primary Ovarian Insufficiency pathology, Skin Neoplasms pathology
- Abstract
Context: Primary Ovarian insufficiency (POI) affects 1% of women aged <40 years and leads most often to definitive infertility with adverse health outcomes. Very recently, genes involved in deoxyribonucleic acid (DNA) repair have been shown to cause POI., Objective: To identify the cause of a familial POI in a consanguineous Turkish family., Design: Exome sequencing was performed in the proposita and her mother. Chromosomal breaks were studied in lymphoblastoid cell lines treated with mitomycin (MMC)., Setting and Patients: The proposita presented intrauterine and postnatal growth retardation, multiple pilomatricomas in childhood, and primary amenorrhea. She was treated with growth hormone (GH) from age 14 to 18 years., Results: We identified a novel nonsense variant in exon 9 of the minichromosome maintenance complex component 8 gene (MCM8) NM_001281522.1: c0.925C > T/p.R309* yielding either a truncated protein or nonsense-mediated messenger ribonucleic acid decay.The variant was homozygous in the daughter and heterozygous in the mother. MMC induced DNA breaks and aberrant metaphases in the patient's lymphoblastoid cells. The mother's cells had intermediate but significantly higher chromosomal breaks compared with a control., Conclusion: We describe a novel phenotype of syndromic POI related to a novel truncating MCM8 variant. We show for the first time that spontaneous tumors (pilomatricomas) are associated with an MCM8 genetic defect, making the screening of this gene necessary before starting GH therapy in patients with POI with short stature, especially in a familial or consanguineous context. Appropriate familial monitoring in the long term is necessary, and fertility preservation should be considered in heterozygous siblings to avoid rapid follicular atresia., (© Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2020
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48. Dermoscopic and Immunohistochemical Observations in Anetodermic Pilomatricoma: A Case Report.
- Author
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Chen HS, Li FG, Wang T, Huang WB, and Fan YM
- Subjects
- Adolescent, Anetoderma complications, Anetoderma pathology, Dermoscopy, Hair Diseases pathology, Humans, Immunohistochemistry, Male, Pilomatrixoma complications, Pilomatrixoma pathology, Skin Neoplasms pathology, Anetoderma diagnostic imaging, Hair Diseases diagnostic imaging, Pilomatrixoma diagnostic imaging, Skin Neoplasms diagnostic imaging
- Published
- 2020
- Full Text
- View/download PDF
49. Pilomatrix carcinoma of the lacrimal caruncle: a case report.
- Author
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Harbiyeli II, Ozcan AA, Acıkalin A, Ciloglu E, and Shields CL
- Subjects
- Biopsy, Carcinoma, Basal Cell surgery, Conjunctival Neoplasms surgery, Hair Diseases pathology, Hair Follicle pathology, Humans, Lacrimal Apparatus Diseases surgery, Male, Middle Aged, Pilomatrixoma surgery, Carcinoma, Basal Cell pathology, Conjunctival Neoplasms pathology, Lacrimal Apparatus Diseases pathology, Pilomatrixoma pathology
- Abstract
A 45-year-old man presented with a 3-month history of a mass located in the caruncle of his right eye. An incisional biopsy had been performed one month prior by another specialist, and the histopathology report showed basal cell carcinoma. The mass was completely excised with a 2 mm safety margin, and the large conjunctival defect was reconstructed with one sheet of amniotic membrane allograft. A histological diagnosis of pilomatrix carcinoma was established. To prevent recurrence after surgery, we added bevacizumab (25 mg/mL, 1.25 mg/mL per drop) eye drops four times per day for three months. At the one-year follow-up, the patient showed no evidence of local recurrence or distant metastasis after initial excision and remains under close follow-up. Pilomatrix carcinoma should be considered in the differential diagnosis of a caruncular mass.
- Published
- 2020
- Full Text
- View/download PDF
50. Rare Case Report of Pilomatrical Carcinosarcoma in a Pediatric Patient.
- Author
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Gates GA, Nguyen J, and Binder SW
- Subjects
- Child, Female, Humans, Carcinosarcoma pathology, Hair Diseases pathology, Pilomatrixoma pathology, Skin Neoplasms pathology
- Abstract
We present a case report of the exceptionally rare pilomatrical carcinosarcoma in an even rarer pediatric age group, a 9-year-old female patient. The tumor showed biphasic pilomatrical carcinoma and malignant sarcomatous transformation. To date, the patient is healing well without signs of recurrence. Although limited clinical follow-up is available due to the recent diagnosis, this case may provide a rare look at the clinical outcome of this very rare tumor.
- Published
- 2020
- Full Text
- View/download PDF
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