A case of mosaicism in ectodermal dysplasia–skin fragility syndrome
Sign Up to like & getrecommendations! Published in 2017 at "British Journal of Dermatology"
DOI: 10.1111/bjd.15374
Abstract: DEAR EDITOR, Ectodermal dysplasia–skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene… read more here.
Keywords: mutation; dysplasia skin; skin fragility; skin ... See more keywords
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Dermatology"
DOI: 10.1111/pde.13711
Abstract: A 2‐year‐old girl was brought to us for the evaluation of sparse curly scalp hair and rough palms and soles since early infancy. The parents also gave history of blisters and erosions at sites of… read more here.
Keywords: skin fragility; skin; palmoplantar keratoderma; keratoderma skin ... See more keywords