S Wei 1 , Y Zhou , T D Zhang , Z M Huang , X B Zhang , H L Zhu , B H Liang , L Lin , L Deng Show Affiliations »
Abstract
BACKGROUND: Progressive symmetrical erythrokeratodermia (PSEK) is a rare inherited cornification disorder characterized by symmetrical erythematous hyperkeratotic plaques. The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4. A mutation in the loricrin gene (LOR) was found in patients with PSEK, who were members of a family with Vohwinkel syndrome. It would therefore be of interest to determine if PSEK is also caused by mutations in these genes. AIM: To examine the mutation status of GJB3, GJB4 and LOR in patients with PSEK and in control subjects. METHODS: Genomic DNA samples from 25 patients with PSEK and 56 healthy controls were examined by sequencing analysis of the coding sequences of GJB3, GJB4 and LOR. RESULTS: There were no mutations found in any of these three genes. CONCLUSIONS: PSEK is a disorder distinct from EKV, and the true pathogenesis of PSEK remains unknown. © The Author(s). CED
BACKGROUND: Progressive symmetrical erythrokeratodermia (PSEK) is a rare inherited cornification disorder characterized by symmetrical erythematous hyperkeratotic plaques. The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4 . A mutation in the loricrin gene (LOR ) was found in patients with PSEK, who were members of a family with Vohwinkel syndrome . It would therefore be of interest to determine if PSEK is also caused by mutations in these genes. AIM: To examine the mutation status of GJB3 , GJB4 and LOR in patients with PSEK and in control subjects. METHODS: Genomic DNA samples from 25 patients with PSEK and 56 healthy controls were examined by sequencing analysis of the coding sequences of GJB3 , GJB4 and LOR . RESULTS: There were no mutations found in any of these three genes. CONCLUSIONS: PSEK is a disorder distinct from EKV, and the true pathogenesis of PSEK remains unknown. © The Author(s). CED
© 2010 British Association of Dermatologists.
Entities: Disease
Gene
Species
Mesh： See more »
Year: 2010
PMID： 21198793 DOI： 10.1111/j.1365-2230.2010.03974.x
Source DB: PubMed Journal: Clin Exp Dermatol ISSN： 0307-6938 Impact factor: 3.470