ISSN: 2155-9554
+44 1478 350008
L Puig
Spain
Case Report
Erythrokeratoderma En cocardes with R32W Mutation in GJB3
Author(s): Anna López-Ferrer, L Puig, M Nakamura, MT Fernández-Figueras and A Alomar
Anna López-Ferrer, L Puig, M Nakamura, MT Fernández-Figueras and A Alomar
The term erythrokeratodermas is applied to a group of inherited disorders of keratinisation characterized by well demarcated erythematous lesions and hyperkeratotic plaques. Erythrokeratoderma en cocardes is an atypical variant characterised by the presence of transient hyperkeratotic and erythematous plaques. The pathogenetic mechanisms of most of the erythrokeratodermas are related to mutations in the connexin gene family, but until now, there is no information concerning the genetic alterations that are responsible for the appearance of the erythrokeratoderma en cocardes.
We report the case of a 31-year-old woman with a 5-year history of fixed erythematous plaques with scaly rims on the arms, trunk, axillae and limb flexures that disappeared spontaneously and recurred every summer. According to clinical features the diagnosis of erythrokeratoderma en cocard.. View More»
DOI:
10.4172/2155-9554.1000113