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Placode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome.
iScience
January 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29425, USA.
Mutations in the human genes encoding the endothelin ligand-receptor pair and cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific mutation plus related genetic resources.
View Article and Find Full Text PDFPhakomatosis pigmentovascularis type 2a: a rare case report.
AME Case Rep
December 2024
Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.
Background: Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement.
View Article and Find Full Text PDFReconstruction of Back Defect from Giant Congenital Melanocytic Nevus Using Dermal Substitute Matrix.
Plast Reconstr Surg Glob Open
January 2025
From the Division of Plastic and Reconstructive Surgery, Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Giant congenital melanocytic nevi are large pigmented premalignant lesions present at birth that have an associated risk of malignant transformation. Full-thickness excision of these lesions would be required to eliminate this risk. However, giant nevi can leave behind large defects that can be challenging to reconstruct.
View Article and Find Full Text PDFClinical Features and Risks of Congenital Melanocytic Naevi: A Retrospective Analysis of Patients at the Queensland Children's Hospital.
Australas J Dermatol
January 2025
QCIF Bioinformatics, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Background/objectives: Congenital melanocytic naevi (CMN) are a risk factor for melanoma. Melanoma risk is dependent on the congenital phenotype. Our primary aims were to assess the clinical characteristics of CMN that indicate a high risk of neurocutaneous melanosis (NCM) and melanoma in an Australian paediatric population group; to identify patient characteristics and clinical features of CMN that trigger further investigations; and to determine the rate of malignancy and other complications for CMN.
View Article and Find Full Text PDFCombination treatment of cultured epithelial autograft and meshed full-thickness skin graft for giant congenital melanocytic nevus.
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Department of Dermato-Oncology/Dermatology, NHO Kagoshima Medical Center, Kagoshima, Japan.
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