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Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.

Authors :
Cohen-Barak, Eran
Danial-Farran, Nada
Hammad, Helwa
Aleme, Ola
Krauz, Judith
Gavish, Ester
Khayat, Morad
Ziv, Michael
Shalev, Stavit
Source :
Acta Dermato-Venereologica. Sep2018, Vol. 98 Issue 8, p809-810. 2p.
Publication Year :
2018

Abstract

The article presents a case study of 10-year-old girl who was presented with hypotrichosis and follicular keratinization abnormality. It notes the treatment of hair follicle disorder with keratosis pilaris atrophicans (KPA), presence of desmosomal cadherin DSG4 in hair follicle and autosomal recessive (AR) inheritance in KPA caused by mutation in DSG4.

Details

Language :
English
ISSN :
00015555
Volume :
98
Issue :
8
Database :
Academic Search Index
Journal :
Acta Dermato-Venereologica
Publication Type :
Academic Journal
Accession number :
131546666
Full Text :
https://doi.org/10.2340/00015555-2976