31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
101 citations
,
July 1985 in “Journal of the American Academy of Dermatology” In this study, oral biotin improved hair growth, strength, and combability in a child with uncombable hair syndrome, while hair in two others slowly improved without biotin.
3 citations
,
June 2004 in “Työväentutkimus Vuosikirja” This article reviews the roles of several signaling pathways and molecules, including FGFs, Hh, Notch, TGF, and Wnt, in the development of teeth and hair follicles, but reports no new findings.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
6 citations
,
May 2000 in “Pediatric Dermatology” This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.