[Darier's disease--a familial case report]

Darier's disease is a slowly progressive autosomal dominant disorder characterized by a gene with variable penetrance. However, many cases of this disease are considered to be a new mutation in the genealogic tree. The prevalence of the disease was estimated as 1/55,000 to 1/100,000.

The authors report a case of a female patient, 66 years of age, with Darier's disease, hospitalized at the Clinic of Dermatovenereology of the Clinical Center Novi Sad. The first changes of the skin occurred at the age of 16 originally on the shins and face, as miniature hard papules confluent in larger areas. Skin changes always exacerbated in the summer. At hospital admission the patient's head and hair were whole covered with white, thick, keratotics layer, resembling a helmet. The skin of the trunk was covered with white-gray, hyperkeratotic, fused papules like verrucous plaques, more expressed on the back. The skin of forearms presented with hyperkeratotic papules, and dorsum of the hands presented with plaques. Lower legs were covered with fused papilokeratotic, rough cauliflower-like layers with macerates and foetor. Buccal mucous was covered with whitish papules on erythematous lesions of cobblestone-like appearance. The nails were thickened with longitudinal furrowing, whereas the left third finger presented with V-shaped onychorrhexis. 4 generations were investigated, and the disease occurred only in the patient's younger daughter.

Beside the classic "seborrheic" forms of Darier's disease there are a few clinical types: hypertrophied (intertriginous), vesiculo-bullous and linear (zosteriform) type.

This case is a very severe classic form of Darier's disease, with variable penetrance and severity in the family.