Chouk Chourouk, Litaiem Noureddine
University of Tunis El Manar
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.
红皮病性角化病是一组遗传性疾病，其特征为边界清晰的红斑性病变和角化过度斑块。已证明连接蛋白突变是大多数变异性红皮病性角化病（EKV）病例的病因。在这种情况下，我们通常会观察到游走性红色斑块以及固定的局限性或全身性角化斑块。变异性红皮病性角化病也被称为门德斯·达·科斯塔综合征。后来，在一个与EKV特征相关的单一家庭中观察到了进行性对称性红皮病性角化病（PSEK）的临床特征，已知该疾病会诱发静止性红斑进行性斑块。因此，人们认为这两种疾病（EKV和PSEK）是单一遗传性临床实体的不同表现形式。随着在EKV和PSEK患者中发现相同的基因突变，一些作者提议将进行性变异性红皮病性角化病（EKVP）作为名称，以涵盖EKV和PSEK临床表型的多样性。
