darier disease


Summary: 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.

Top Publications

  1. Lacarrubba F, Verzì A, Errichetti E, Stinco G, Micali G. Darier disease: Dermoscopy, confocal microscopy, and histologic correlations. J Am Acad Dermatol. 2015;73:e97-9 pubmed publisher
  2. Haase O, Moser A, Rose C, Kurth A, Zillikens D, Schmidt E. Generalized cowpox infection in a patient with Darier disease. Br J Dermatol. 2011;164:1116-8 pubmed publisher
  3. Leong I, Stuckey A, Ahanian T, Cederlöf M, Wikstrom J. Novel mutations in Darier disease and association to self-reported disease severity. PLoS ONE. 2017;12:e0186356 pubmed publisher
    b>Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin...
  4. Wilder E, Frieder J, Sulhan S, Michel P, Cizenski J, Wright J, et al. Spectrum of orocutaneous disease associations: Genodermatoses and inflammatory conditions. J Am Acad Dermatol. 2017;77:809-830 pubmed publisher
    ..It is essential for dermatologists to be familiar with oral cavity manifestations associated with dermatologic diseases for prompt diagnosis, management, and appropriate referral to stomatology and dentistry...