Zhou F.,Anhui Medical University |
Zhou F.,State Key Laboratory of Dermatology Incubation |
Fu H.,Anhui Medical University |
Liu L.,Anhui Medical University |
And 7 more authors.
International Journal of Dermatology | Year: 2014
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 identify sequence alteration of these genes in a Chinese PSEK patient with pseudoainhum. Methods: Genomic DNA was purified from the patient's peripheral blood. Mutation analysis of target genes was performed by direct sequencing using ABI 3730 sequencer Results: No exonic mutations was identified in the aforementioned genes. Conclusions: The result underlines the genetic heterogeneity of PSEK and other related erythrokeratodermas. © 2014 The International Society of Dermatology. Source