Analysis of the clinical and genetic characteristics of a progressive symmetric erythrokeratoderma

VernacularTitle:进行性对称性红斑角化症一家系的临床和遗传特点分析
Author: Yan DUAN ; Kang ZENG ; Ruiya LI ; Yanhua LIANG
Publication Type:Journal Article
Keywords: Erythema/GE; Keratosis/GE
From: Journal of Chinese Physician 2016;18(2):171-174,177
CountryChina
Language:Chinese
Abstract: Objective To investigate the clinical and genetic characteristics of a progressive symmetric erythrokeratoderma (PSEK).Methods The clinical and genetic characteristics of a PSEK were compared and analyzed with clinical collection and review of 17 PSEK families reported in China since 1980.Results PSEK was consistent with autosomal dominant inheritance.PSEK had the feature with incomplete penetrance and variable expression.The clinical features included hyperkeratotic plaques with distinct border and strikingly symmetric distribution pattern on the extremities.Part of patients was extended to other areas of the body.The onset of the disease commonly started in infancy or childhood.The general health condition was not affected.PSEK might be associated with other clinical symptoms.The diseased potential increased in the family of consanguineous marriage.Conclusions PSEK has genetic heterogeneity.Its causative genes have not been determined.Further studies are needed.