Darier disease: discrete phenotype in a Sinhalese patient with Darier disease. 2015

R G L Nellen, and A H M M Arits, and M van Geel, and P M Steijlen, and M A M van Steensel
Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.

UI MeSH Term Description Entries
D007644 Darier Disease An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. Acrokeratosis Verruciformis of Hopf,Darier-White Disease,Keratosis Follicularis,Acantholytic Dyskeratotic Epidermal Nevi,Acantholytic Dyskeratotic Epidermal Nevus,Acrokeratosis Verruciformis,Darier's Disease,Hopf Disease,Darier White Disease,Darier-White Diseases,Dariers Disease,Disease, Darier,Disease, Darier's,Disease, Darier-White,Disease, Hopf,Diseases, Darier-White,Diseases, Hopf,Hopf Acrokeratosis Verruciformis,Hopf Diseases,Verruciformis, Acrokeratosis
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013188 Sri Lanka Country in southern Asia, an island in the Indian Ocean, south of India. The capital is Colombo. Ceylon

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