2007PubMedRequires access

Darier disease and Hailey-Hailey disease.

Elena Buteică, Florin Burada, Irina Stoicescu, B Stănoiu, Claudia Valentina Georgescu

Open publisher page 37 citations

Abstract

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.

About this research paper

What this paper is about

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.

Why it matters

OpenAlex reports 37 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.

Key concepts: Genodermatosis, Darier's disease, Hailey–Hailey disease, Darier Disease, Disease, Dermatology, Medicine, Dyskeratosis

Related papers

Back to paper searchBrowse research topicsOriginal source
Darier disease and Hailey-Hailey disease. — Research Paper | ScholarLens