Open AccessProgressive symmetric erythrokeratodermia with delayed intellectual milestones and convulsions
Author(s) -
Shyam Verma,
Uwe Wollina
Publication year - 2012
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/2229-5178.93502
Subject(s) - medicine , genodermatosis , connexin , pediatrics , dermatology , genetics , gene , gap junction , biology , intracellular
Progressive symmetric erythrokeratoderma is an uncommon genodermatosis and is thought to arise due to mutations in the connexin gene, however, genetic heterogenicity has been described. Very few cases of neurological involvement have been described in this unusual entity. We report a case of progressive symmetric erythrokeratoderma, with convulsions and delayed intellectual milestones.