15 results on '"Scalp abnormalities"'
Search Results
2. Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis.
- Author
-
Marneros AG
- Subjects
- Humans, Animals, Neural Crest pathology, Neural Crest embryology, Skin pathology, Keratinocytes, Mutation, Scalp pathology, Scalp abnormalities, Mice, Ectodermal Dysplasia genetics, Ectodermal Dysplasia pathology, Morphogenesis genetics
- Abstract
Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp skin. Dominant-negative mutations in the genes KCTD1 or KCTD15 cause ACC owing to loss of function of KCTD1/KCTD15 complexes in cranial neural crest cells (NCCs), which normally form midline cranial suture mesenchymal cells that express keratinocyte growth factors. Loss of KCTD1/KCTD15 function in NCCs impairs the formation of normal midline cranial sutures and, consequently, the overlying skin, resulting in ACC. Moreover, KCTD1/KCTD15 complexes in keratinocytes regulate skin appendage morphogenesis., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
3. Short Anagen Syndrome.
- Author
-
Young J, Mifsud M, and Mercieca L
- Subjects
- Humans, Female, Child, Scalp pathology, Scalp abnormalities, Hair abnormalities, Hair pathology
- Abstract
A 10-year-old healthy, Caucasian girl presented in May 2021 with short and thin scalp hair since birth (Figures 1A-C). She had achieved all of her developmental milestones, and her parents denied any similar family history. She had only two hair cuts in the past, which were performed to trim long hair over the midscalp to have a uniform length. Hair at the front, back, and sides of the scalp were never trimmed. Examination revealed short, dark, and thin hair, varying in length from a few millimeters to 2 cm, over the frontal, parietal, and occipital areas. Longer hair were present over the midscalp, varying in length from 5 cm to 8 cm. The hairpull test was negative, and dermatoscopic examination of short hair demonstrated tapered ends, rather than cut ends. Microscopic examination revealed no hair shaft abnormality, and a trichogram of 50 parietal hair fibers demonstrated an anagen versus telogen ratio of 68:32. No associated skin, dental, or nail abnormalities were discovered.
- Published
- 2024
4. Differential diagnosis of bulging scalp: beyond cephalohematoma and subgaleal hematoma.
- Author
-
Gonçalves Campos, Lillian, Duraes Prioste, Tassia Andrea, and Junqueira Bizzi, Jorge Wladimir
- Subjects
- *
DIFFERENTIAL diagnosis , *CEPHALAEMATOMA , *HEMATOMA , *MAGNETIC resonance imaging , *ULTRASONIC imaging , *SCALP abnormalities - Published
- 2024
- Full Text
- View/download PDF
5. Scalp Closure in Midline Cutis Aplasia-An Absolute Indication for Preoperative Imaging.
- Author
-
Chim H, Arcelona C, and Gosain AK
- Subjects
- Humans, Alopecia surgery, Alopecia diagnostic imaging, Magnetic Resonance Imaging methods, Preoperative Care, Skull abnormalities, Skull surgery, Skull diagnostic imaging, Tissue Expansion methods, Tomography, X-Ray Computed, Ectodermal Dysplasia surgery, Ectodermal Dysplasia diagnostic imaging, Scalp surgery, Scalp abnormalities
- Abstract
The ideal evaluation and treatment of aplasia cutis congenita remains disputed. We present a case of midline scalp cutis aplasia that healed by secondary intention, leaving an area of residual alopecia. There were no clinical indicators of an underlying calvarial defect. Tissue expansion of the scalp was done in preparation for scalp closure. However, on the removal of the expanders and scalp advancement, an unrecognized midline calvarial defect in which a scar tract of herniated dura was found. This resulted in a dural tear, repaired with minimal hemorrhage. However, manipulation of the sagittal sinus resulted in a right subdural hemorrhage followed by cerebral ischemia and a stroke. On the basis of this clinical scenario, we recommend that all cases of midline scalp cutis aplasia undergo preoperative imaging with thin slices of the calvaria before performing scalp advancement-even if the only clinical indication for surgery is scalp alopecia without a palpable skull defect., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)
- Published
- 2024
- Full Text
- View/download PDF
6. Aplasia cutis congenita type VII of the lower extremity: a favourable disease course with minimal conservative treatment.
- Author
-
Quach KT, Wind C, van Mierlo K, and Vos LE
- Subjects
- Infant, Newborn, Humans, Lower Extremity, Skin, Scalp abnormalities, Disease Progression, Rare Diseases, Conservative Treatment, Ectodermal Dysplasia
- Abstract
Aplasia cutis congenita (ACC) is a group of rare heterogeneous disorders characterised by absent areas of skin at birth. The majority of cases involve the scalp region. ACC limited to one lower limb is extremely rare. We report an usual case of ACC limited to the left thigh of which healing occurred in utero. The case was managed conservatively and the disease course has been favourable with no limitations in limb function and an entirely normal development. Most cases of ACC are self-healing, justifying a conservative approach. This holds further true for ACC limited to one lower limb where the majority of cases reported to date show a favourable disease course with minimal conservative treatment., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2024
- Full Text
- View/download PDF
7. KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
- Author
-
Raymundo JR, Zhang H, Smaldone G, Zhu W, Daly KE, Glennon BJ, Pecoraro G, Salvatore M, Devine WA, Lo CW, Vitagliano L, and Marneros AG
- Subjects
- Humans, Scalp abnormalities, Epidermis, Co-Repressor Proteins, Potassium Channels genetics, Neural Crest, Ectodermal Dysplasia genetics
- Abstract
Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has been proposed to be due to a primary keratinocyte abnormality. Why it forms mainly at this anatomic site has remained a long-standing enigma. KCTD1 mutations cause ACC, ectodermal abnormalities, and kidney fibrosis, whereas KCTD15 mutations cause ACC and cardiac outflow tract abnormalities. Here, we found that KCTD1 and KCTD15 can form multimeric complexes and can compensate for each other's loss and that disease mutations are dominant negative, resulting in lack of KCTD1/KCTD15 function. We demonstrated that KCTD15 is critical for cardiac outflow tract development, whereas KCTD1 regulates distal nephron function. Combined inactivation of KCTD1/KCTD15 in keratinocytes resulted in abnormal skin appendages but not in ACC. Instead, KCTD1/KCTD15 inactivation in neural crest cells resulted in ACC linked to midline skull defects, demonstrating that ACC is not caused by a primary defect in keratinocytes but is a secondary consequence of impaired cranial neural crest cells, giving rise to midline cranial suture cells that express keratinocyte-promoting growth factors. Our findings explain the clinical observations in patients with KCTD1 versus KCTD15 mutations, establish KCTD1/KCTD15 complexes as critical regulators of ectodermal and neural crest cell functions, and define ACC as a neurocristopathy.
- Published
- 2023
- Full Text
- View/download PDF
8. Medusa's Wrath: Bleeding Giant Scalp Arteriovenous Malformation in an Adult: A Case Report.
- Author
-
Briones RC, Cruz KS, Resoco DR, and Briones MVA
- Subjects
- Humans, Adult, Middle Aged, Scalp abnormalities, Scalp blood supply, Scalp surgery, Treatment Outcome, Surgical Flaps, Arteriovenous Malformations complications, Arteriovenous Malformations diagnostic imaging, Arteriovenous Malformations surgery, Embolization, Therapeutic methods
- Abstract
Background: Scalp arteriovenous malformation (AVM) is a rare congenital disease that may present with massive bleeding. To date, surgical excision remains the definitive management. However, the procedure could lead to intraoperative bleeding due to the tumor's high blood flow and complex vascularity., Case Report: A 49-year old Filipino male presented with a bleeding giant scalp AVM. Computed tomographic scan and duplex studies showed multiple feeding vessels with turbulent flow arising primarily from the right superficial temporal, right posterior auricular, and occipital vessels. Prior to surgery, the patient underwent transfusion due to preoperative hemoglobin of 6 g/dL. Proximal control of the right external carotid artery was performed through a supine position and left in place to reduce the majority of blood flow to the AVM. The patient was turned to a prone position for surgical planning to achieve maximal skin-sparing dissection prior to excision. First, ligation of bilateral superficial temporal and posterior auricular arteries was performed. Next, excision above the periosteum with segmental ligation of feeding vessels around the AVM was carried out. Reconstruction of the defect was done via scalp advancement flap and split-thickness skin grafting. Intraoperative blood loss was 1.6 L. On the sixth postoperative day, the patient was discharged with 100% graft take., Conclusion: Management of scalp AV malformation is challenging, and despite measures to decrease intraoperative bleeding, blood loss is still high. While preoperative embolization has been reported to decrease the risk of bleeding, this procedure is not currently available in our setting. Our case highlights the complexity of giant scalp AV malformation management in a limited-resource setting. Even in the absence of endovascular intervention, outright surgical excision of AVM can be performed, albeit with higher levels of blood loss.
- Published
- 2023
- Full Text
- View/download PDF
9. Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.
- Author
-
Zaersabet M, Koochakkhani S, Sarmast Y, and Salmani H
- Subjects
- Humans, Scalp abnormalities, Guanine Nucleotide Exchange Factors, Ectodermal Dysplasia, Abnormalities, Multiple, Limb Deformities, Congenital
- Published
- 2023
- Full Text
- View/download PDF
10. Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report.
- Author
-
Okido MM, Ragazini CS, Duarte G, Coutinho CM, and Marcolin AC
- Subjects
- Humans, SARS-CoV-2, Scalp abnormalities, COVID-19 complications, Ectodermal Dysplasia complications, Limb Deformities, Congenital diagnosis
- Abstract
Background . Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defect s . The pathogenesis is unknown, but it is postulated that ischemic events in susceptible tissues cause the lesions in the embryonic period. Case report . We present a newborn with a severe phenotype of Adams-Oliver syndrome. The infant's mother had a SARS-CoV-2 infection in the first trimester of pregnancy. Prenatal ultrasound indicates a probable worsening of the disease after the first trimester. Conclusion. This study shows a previously unpublished severe AOS phenotype in a term newborn. There are some signs that the disease could have progressed beyond the first trimester, either spontaneously or by the inflammatory mechanisms of SARS-CoV-2.
- Published
- 2023
- Full Text
- View/download PDF
11. Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.
- Author
-
AlMatrifi FR, Al-Shammari AA, Al Nefily RM, AlAnazi RA, Abdulwahab AH, and Ammar AS
- Subjects
- Humans, Infant, Newborn, Female, Trisomy 13 Syndrome diagnosis, Trisomy 13 Syndrome complications, Skull surgery, Brain, Scalp abnormalities, Scalp surgery, Ectodermal Dysplasia diagnosis, Ectodermal Dysplasia genetics, Ectodermal Dysplasia complications
- Abstract
Background: Aplasia cutis congenita is a heterogeneous disorders group with a rare reported incident of 0.5 to 1 in 10,000 births. ACC can be associated with physical defects or syndrome that may help in diagnosis, prognosis and further evaluation of the patient. Trisomy 13 is one of the most common fetal life limiting diagnosis which is associated with ACC of membranous type scalp., Objective: In this article, we report cases of aplasia cutis congenita of the scalp with dura and bone defect and exposed sagittal sinus in newborn diagnosed to have trisomy 13. It emphasizes the importance of ACC associated syndrome which is having high mortality prior to surgical intervention., Case Presentation: The patient was born at 35 weeks of gestation. Her physical examination revealed a newborn girl with dysmorphic facial features including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low seat ears. She had area of loss of scalp skin and skull bone with seen brain tissue and sagittal sinus were exposed that was measure 6 by 5 cm in size. Additionally, she had a clenched fist and overlapping fingers and rocker bottom feet. Laboratory investigations include basic labs and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 in all 20 metaphase cells counts., Conclusion: The patient was managed conservatively. However, a multidisciplinary team agreed on do not resuscitate with no further surgical intervention as survival rate of trisomy 13 is poor., 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., (© 2023 Fisal Rashid AlMatrif, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar.)
- Published
- 2023
- Full Text
- View/download PDF
12. Scalp arteriovenous malformations - 20 years of experience in a tertiary healthcare centre.
- Author
-
Pongeluppi RI, Cardoso RAM, Jr ELZ, Ballestero MFM, Oliveira RS, Abud DG, Jr JAF, and Colli BO
- Subjects
- Humans, Male, Female, Young Adult, Adult, Retrospective Studies, Tertiary Healthcare, Treatment Outcome, Necrosis, Scalp surgery, Scalp abnormalities, Scalp blood supply, Arteriovenous Malformations surgery
- Abstract
Background: Scalp arteriovenous malformations (SAVM) are extremely uncommon vascular malformations, with only ~200 cases published in the English language in the past years. The objective of the present study was to describe the experience of a single reference service in neurosurgery., Methods: This is a descriptive and retrospective study conducted at our institution, which included cases of SAVM treated between 2001 and 2022. All information were extracted from the medical records of our institution. Patient confidentiality was preserved. Furthermore, an illustrative case has been described in detail., Results: Seven patients were included. The male-to-female ratio was 2.5: 1 and the mean age was 23.3 (3-42) years. Most cases (56.4%) were spontaneous and the lesions were located in the frontal (28.7%) and parietal (28.7%) regions. All lesions were supplied by more than one feeder, with the superficial temporal and occipital arteries being the most commonly involved (71.5%). Six patients underwent preoperative embolization, and 56.4% patients had scalp necrosis. Five patients underwent surgical resection, all without recurrence and with good postoperative evolution., Conclusions: More than one artery was involved in all cases, and the properties of the involved vessel influences the approach strategy. Surgical treatment is curative, and preoperative embolization helps reduce bleeding during the surgery. Complete resection of the lesions prevents associated complications, such as bleeding or recurrence. Scalp necrosis is a frequent complication in the treatment of these lesions, and a multidisciplinary approach involving reconstructive plastic surgery should always be considered.
- Published
- 2023
- Full Text
- View/download PDF
13. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
- Author
-
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, and Pérez-Jurado LA
- Subjects
- Humans, Scalp abnormalities, Scalp metabolism, HEK293 Cells, Transcription Factor AP-1 genetics, Exons genetics, RNA, Messenger, Fos-Related Antigen-2 genetics, Autism Spectrum Disorder genetics, Ectodermal Dysplasia genetics, Neurodevelopmental Disorders genetics
- Abstract
Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex., Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability., Results: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed., Conclusion: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology., Competing Interests: Conflict of Interest L.A.P.-J. is founding partner and scientific advisor of qGenomics Laboratories. All other authors declare no conflicts of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
14. Case Report: Anesthesia for a Neonate With Cutis Aplasia.
- Author
-
Quak SM and Chong SY
- Subjects
- Infant, Newborn, Female, Humans, Scalp surgery, Scalp abnormalities, Ectodermal Dysplasia complications, Ectodermal Dysplasia surgery, Anesthesia
- Abstract
Cutis aplasia is a rare condition characterized by skin and subcutaneous tissue defects. Researchers have previously described both conservative and surgical management methods. We report herein the case of a neonate with extensive cutis aplasia involving 37% of the total body surface area. Due to the risk of meningitis and catastrophic hemorrhage associated with scalp defects, she underwent staged surgical procedures with skin harvesting and synthetic skin application, followed by the application of cultured epithelial autografts. This report highlights the challenges in temperature and fluid management as well as intraoperative positioning in a neonate with cutis aplasia., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 International Anesthesia Research Society.)
- Published
- 2022
- Full Text
- View/download PDF
15. Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.
- Author
-
Mercadante F, Piro E, Busè M, Salzano E, Ferrara A, Serra G, Passarello C, Corsello G, and Piccione M
- Subjects
- Humans, Rare Diseases, Scalp abnormalities, Scalp pathology, Noonan Syndrome complications, Noonan Syndrome diagnosis, Noonan Syndrome genetics
- Abstract
Background: Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. Several references in the literature have reported association between nonessential primary form of CVG and NS., Case Presentation: we report two cases of newborns with CVG and phenotype suggestive for NS who have been diagnosed to harbour the same pathogenetic variant in SOS1 gene., Conclusions: previously described patients with NS presenting CVG had received only clinical diagnosis. Therefore we report the first patients with CVG in which the clinical suspicion of NS is confirmed by molecolar analysis., (© 2022. The Author(s).)
- Published
- 2022
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.