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Epidemiology and Management of Actinic Keratosis in France: A General Population Survey (REAKT).
Acta Derm Venereol
January 2025
Department of Dermatology, Saint-André Hospital, Bordeaux University Hospital, Bordeaux, France.
The objective of this retrospective observational study was to estimate the prevalence of actinic keratosis (AK) in individuals aged ≥ 40 years in France, to describe the characteristics of affected patients, and to describe treatments. A representative panel of 20,000 households with ≥ 1 member aged ≥ 40 years were invited to participate. Participants who reported AK lesions diagnosed by a physician were eligible.
View Article and Find Full Text PDFNevoid 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 PDFAnthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFThe Performance of Topical Insulin in Persistent Corneal Epithelial Defects and Persistent Corneal Ulcers - A Case Series.
Curr Eye Res
January 2025
Department of Ophthalmology, Medical University of Graz, Graz, Austria.
Purpose: To retrospectively describe the performance of topical insulin in persistent corneal epithelial defects (CED) and persistent corneal ulcers.
Methods: We reviewed cases of patients treated for persistent CED and persistent corneal ulcers using topical insulin in a concentration of 25 IU per milliliter three times per day. The closure rate of CED and corneal ulcers was the main outcome measure.
Bilateral Choroidal Metastases from Primary Cutaneous Melanoma Following Nivolumab Discontinuation: A Case Report.
Ocul Immunol Inflamm
January 2025
Ocular Oncology Service, Institute of Oncology, Tecnologico de Monterrey, Monterrey, Mexico.
Purpose: To present the case of a young patient with BRAF V600E-mutant cutaneous melanoma who developed bilateral choroidal metastases complicated by neovascular glaucoma (NVG) in both eyes following the interruption of nivolumab therapy.
Methods: A 28-year-old female with primary cutaneous melanoma of the left hand underwent surgical resection and adjuvant nivolumab. Immunotherapy was discontinued due to immune-related acute interstitial nephritis.
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