Darier's disease

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(ILDS Q82.868) | ICD9 = | ICDO = | OMIM = 124200 | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 209 | MeshID = D007644 |'Dariers disease' is a genetic disorder discovered by French dermatologist Ferdinand-Jean Darier. Dariers disease is known because of dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules and also called keratosis follicularis.

Genetics

Darier's is an autosomally dominant inherited mutation in the gene ATP2A2. Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of Darier's disease. With the discovery of the ATP2A2 gene, performing genetic tests to confirm the diagnosis of Darier's disease is now possible.

Presentation

It affects both men and women and is not contagious. The disease often starts during or later than the teenage years, typically by the third decade. The symptoms of the disease are thought to be caused by an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion.It most commonly affects the chest, neck, back, ears, forehead, and groin, but may involve other body areas. The rash associated with Darier's disease often has a distinct odor. The rash can be aggravated by heat, humidity, and exposure to sunlight.

Treatment

Treatment of choice for severe cases is oral retinoids. During flares, topical or oral antibiotics may be administered. Cyclosporin and topical corticosteroids have been used during acute flares. Some patients are able to prevent flares with use of topical sunscreens and oral vitamin C. Andrew's Diseases of the Skin (James, Berger, Elston, 10th ed., Saunders Elsevier, 2006)
  • benzoyl peroxide Lippincott's Illustrated Reviews: Biochemistry (Champe, Harvey & Ferrier, ISBN 0781722659, 3rd ed., Lippincott Williams & Wilkins 2005)


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