Darier disease and Hailey-Hailey disease.
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.
Buteică
Elena
E
Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com
Burada
F
F
Stoicescu
Irina
I
Stănoiu
B
B
Georgescu
Claudia Valentina
CV
D000328:Adult; D007644:Darier Disease / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics / Q000473:pathology*