Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia

Autor:	Irene Molina-López, Lula María Nieto-Benito, Ricardo Suárez-Fernández, Minia Campos-Domínguez, Víctor Martínez-González, Marta Feito-Rodríguez
Rok vydání:	2021
Předmět:	Ectodermal dysplasia medicine.medical_specialty business.industry Pathogenic mutation Genodermatosis DNA Helicases Nails Malformed Skin Diseases Genetic Dermatology medicine.disease 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine BASAN SYNDROME Adermatoglyphia Milia Ectodermal Dysplasia 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Mutation Medicine Humans medicine.symptom business
Zdroj:	Pediatric dermatologyREFERENCES. 38(2)
ISSN:	1525-1470
Popis:	Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92bacaf6078e61594e71154aaeb82b75 https://pubmed.ncbi.nlm.nih.gov/33486784 Zobrazit plný text záznamu Plný text