erythrokeratodermia variabilis/erythema

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Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythema.

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Logáil Isteach / Cláraigh

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 with erythema gyratum repens-like lesions.

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Logáil Isteach / Cláraigh

A large pedigree with erythrokeratodermia variabilis (EKV) and erythema gyratum repens-like lesions is described. Clinical, laboratory, and histologic findings of this family are presented. The differential diagnoses of the following dermatoses with an erythematous and a hyperkeratotic component are

[Family study of erythrokeratodermia figurata variabilis].

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Logáil Isteach / Cláraigh

Erythrokeratodermia figurata variabilis (EKV) is a rare disorder of cornification inherited as an autosomal dominant trait. Genetic linkage to the Rh locus on chromosome 1 has been recently documented. In 1957, Sommacal and Schnyder reported on a family with 14 affected members. We have reexamined

[Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins].

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Logáil Isteach / Cláraigh

Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis with disturbed epidermal differentiation. Its clinical picture varies from transient, fast moving erythema to persistent brown hyperkeratoses. The gene defect in EKV was recently located on the short arm of chromosome 1

The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).

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Logáil Isteach / Cláraigh

Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant human genodermatosis. Its clinical appearance varies from transient, fast moving erythemas to persistent brown hyperkeratoses. So far, several mutations in the Cx31 or Cx30.3 gene have been reported to cause EKV in humans. We have

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.

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Logáil Isteach / Cláraigh

Erythrokeratodermia variabilis et progressiva (EKVP, OMIM 133200) is a rare hereditary disorder characterized by varies from transient, fast moving erythema to persistent brown hyperkeratotic plaques. Recently, mutations in the genes gap junction alpha 1 gene (GJA1), GJB3, and GJB4

[A case report of progressive symmetric erythrokeratodermia and a review of progressive erythrokeratodermia in Japan].

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Logáil Isteach / Cláraigh

The patient is a 5-year-old boy. There was no family history of the similar skin eruptions. The erythema with scales appeared on his head, face and neck at 1 month of birth. The erythematous hyperkeratotic plaques spread symmetrically. There was no follicular components. The eruption was chronic and

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

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Logáil Isteach / Cláraigh

Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis. The disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

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Logáil Isteach / Cláraigh

Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.

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Logáil Isteach / Cláraigh

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,

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.

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Logáil Isteach / Cláraigh

Erythrokeratodermias are a clinically heterogeneous group of rare autosomal dominant disorders of cornification with overlapping features including hyperkeratosis and erythema. We ascertained five extended pedigrees with different phenotypes for a linkage study. Three families presented with

Ichthyosis: etiology, diagnosis, and management.

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Logáil Isteach / Cláraigh

The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis and genetic counseling. Congenital autosomal recessive ichthyosis

Reticular erythrokeratoderma: a new disorder of cornification.

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Logáil Isteach / Cláraigh

Heritable disorders of cornification form a large, clinically and genetically heterogeneous group. Recent advances in molecular genetics provide for the first time the opportunity to reliably classify some of these disorders based on their underlying etiology. Many rare phenotypes, however, still

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.

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Logáil Isteach / Cláraigh

Intercellular channels in skin are a complex and functionally diverse system formed by at least eight connexins (Cx). Our recent molecular studies implicating Cx defects in inherited skin disorders emphasize the critical role of this signaling pathway in epidermal differentiation.

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

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Logáil Isteach / Cláraigh

OBJECTIVE The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the identification of 20 SCA genes, the cause of the disorder in a significant proportion of families with SCA remains unexplained. In

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