Erythrokeratodermia Variabilis

Excerpt

Erythrokeratodermia is a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. Connexin mutations have been demonstrated to be responsible for most cases of erythrokeratodermia variabilis (EKV). In this condition, we usually observe migratory red patches along with fixed localized or generalized keratotic plaques. Erythrokeratodermia variabilis was also known as Mendes da Costa syndrome. Later, clinical features of progressive symmetric erythrokeratodermia (PSEK), which is known to induce stationary erythematous progressive plaques, were observed within a single family association with EKV features. Therefore, the thinking became that the two diseases (EKV and PSEK) were different manifestations of a single inherited clinical entity. And with the identification of the same gene mutation in patients with EKV and PSEK, some authors proposed the designation of erythrokeratodermia variabilis progressiva (EKVP) to encompass the diversity of the clinical phenotypes of both EKV and PSEK.