Reconsidering Efficacy and Safety: A Critical Appraisal of Repurposing Anti-inflammatory Targeted Drugs in Darier disease [PDF]
Acta Dermato-VenereologicaEstelle Burle +2 more
doaj +2 more sources
Severe Hypernatremia as Presentation of Netherton Syndrome
Global Medical Genetics, 2023 Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies.
A. Di Nora +5 more
doaj +1 more source
Cowden syndrome - Diagnostic skin signs [PDF]
, 2001 Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +2 more
core +1 more source
Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome [PDF]
, 2003 Background: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle ...
Burgdorf, Walter H. C. +4 more
core +1 more source
Indian Journal of Dermatology, 2013 Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones.
Basanti Devi +4 more
doaj +1 more source
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]
, 2015 Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela +7 more
core +1 more source
Life, 2022 Background: Cutaneous squamous cell carcinoma (cSCC) is one of the most devastating complications of recessive dystrophic epidermolysis bullosa (RDEB).
Angela Filoni +9 more
doaj +1 more source
A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View
Acta Dermato-Venereologica, 2022 is missing (Short communication)
Sanaz Amin Guldmann +3 more
doaj +1 more source
Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G [PDF]
Frontiers in MedicineMónica Mora-Gómez +45 more
doaj +2 more sources
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. [PDF]
, 2015 Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian ...
Jiang, Qiujie +7 more
core +3 more sources