Dermatology - Darier Disease

Dermatology  - Darier Disease 
Due to a loss-of-function mutation in the ATP2A2 gene, Darier disease is an uncommon, autosomal-dominant, hereditary condition with a late start and symptoms related to the mucocutaneous and nail areas.

Painful, itchy, and malodorous lesions are present. They are often made worse by the summer's heat and humidity, as well as by UVB rays, physical damage, and bacterial infections. Less commonly than diminished intelligence, the illness is linked to affective disorders.
Damage
There are numerous, distinct, itchy papules that are crusted and scaling. An hole that resembles a slit is revealed upon removal of the scaling crust. Papules congregate to create enormous plaques, especially in intertriginous areas, which are covered in hypertrophic warty masses that smell bad. Although the hair are unaffected, severe scalp involvement and scarring may lead to irreversible alopecia. The nails have a distinctive V-shaped scalloping, are thin, and split distally. Mucocutaneous lesions, also referred to as "cobblestone" lesions, are white, centrally depressed papules on the mucosa of the cheeks, palate, and gums.

The history of familial involvement, clinical presentation, and histology all play a role in the diagnosis.
The differential diagnosis consists of Grover disease, pemphigus foliaceus, benign familial pemphigus (also known as Hayley-Hailey disease), seborrheic dermatitis, and flat warts (verrucae planae).

Advise patients to refrain from rubbing and friction, and to wear sunscreen. To inhibit bacterial infection, administer systemic and topical antibiotic therapy. Retinoids, either systemic (acitretin or isotretinoin) or topical (tazarotene and adjapalene), provide additional advantages.