Article
No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.
International journal of dermatology - 1 Sept 2014
Zhou Fusheng, Fu Hongyang, Liu Linghua, Cui Yong, Zhang Zhengzhong, Chang Ruixue, Yue Zhen, Yang Sen, Zhang Xuejun
Abstract excerpt
OBJECTIVE: Progressive symmetric erythrokeratodermia (PSEK) is characterized by symmetric and growing erythematous hyperkeratotic patches over the body shortly after birth, particularly trunk and limbs, the buttocks, and the face, sometimes together with palmoplantar keratoderma (PPK). The GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR gene mutation might contribute to PSEK manifestation. This study aimed to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.