منابع مشابه
Erythrokeratodermia variabilis: successful palliative treatment with acitretin.
Sir, Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis which is characterized by the coexistence of hyperkeratotic plaques and transient erythematous patches. Irregular, variably shaped erythematous macular patches may enlarge or regress over time. Concurrently, there are persistent, well-demarcated, geographic, hyperkeratotic plaques which are distributed on the ...
متن کاملAn unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
متن کامل
Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia
Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By using exome sequencing, we ...
متن کاملErythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythema.
Erythrokeratodermia represents a group of rare genetic diseases characterized through disorders of keratinization. Clinically, they are presenting themselves with erythematous and hyperkeratosic lesions that can be persistent or variable as to their aspect and localization. They were classified in erythrokeratodermia variabilis (EKV) and erythrokeratodermia symmetric progressive (EKSP). We are ...
متن کاملNovel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.
© 2012 The Authors. doi: 10.2340/00015555-1436 Journal Compilation © 2012 Acta Dermato-Venereologica. ISSN 0001-5555 Erythrokeratodermia variabilis (EKV, MIM: 133200) is a rare autosomal dominant disorder characterized by the association of: (i) localized or generalized hyperkeratosis, and (ii) transient erythematous areas (1). Hyperkeratotic areas show well-demarcated, geographically outlined,...
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2016
ISSN: 2319-7250
DOI: 10.4103/2319-7250.172469