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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFCongenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.
J Med Genet
December 2024
John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
Introduction: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal anomalies. However, its significant phenotypic heterogeneity often delays the diagnosis. Here, we undertake the first comprehensive characterisation of NBCCS and congenital urinary tract anomalies.
View Article and Find Full Text PDFPembrolizumab-induced acquired lipodystrophy: a case report and review of the literature.
Melanoma Res
December 2024
Department of Medicine, School of Medicine, University of Utah.
Acquired generalized lipodystrophy (AGL) is a rare complication of immune checkpoint inhibitors (ICIs) and is associated with immune-mediated loss of adipose tissue, peripheral resistance to insulin, and serious metabolic complications. Here we report a new case of ICI-induced AGL and provide an updated literature review of published cases. We report a 39-year-old female patient treated with adjuvant pembrolizumab for stage IIIC nevoid melanoma with ICI-induced AGL.
View Article and Find Full Text PDFA case of nevoid basal cell carcinoma syndrome with segmentally unilaterally arranged hypertrichosis and circumscribed palmar hypokeratosis histologically presenting as basal cell carcinoma.
J Dermatol
December 2024
Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report.
Medicine (Baltimore)
November 2024
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
Article Synopsis
- - The study focuses on Nevoid basal cell carcinoma syndrome (NBCCS), a rare condition linked to high rates of basal cell carcinoma, potentially caused by mutations in the PTCH1 gene.
- - Researchers identified a new nonsense mutation in the PTCH1 gene in a mother and her daughter, both of whom also had ovarian mature teratomas.
- - Treatment outcomes showed persistent issues for both individuals, underscoring the complex effects of the mutation and related health challenges.
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