Darier disease in Adult
Darier disease presents in early adolescence to mid-adult life, with peak onset in the second decade of life. The disease manifests with greasy, hyperkeratotic papules in a seborrheic distribution, along with palmoplantar pits, acrokeratosis verruciformis-like papules, and characteristic nail findings ("candy-cane" nails with V-shaped notch at the free edge). Leukodermic macules are a rarely reported finding. These small macules occur most frequently on the ventral aspect of limbs and the trunk. Their onset is prior to puberty. They have been recognized and reported most frequently in individuals with darker skin colors.
In addition to cutaneous findings, 15%-50% of patients present with oral involvement, including cobblestoning of the oral mucosa, gingival hypertrophy, and sialadenitis. Esophageal involvement with erosions has been described. The severity of oral disease may parallel that of cutaneous disease.
After onset, the disease is lifelong. It may be accentuated or only prominent in the spring and summer, when exposures to heat, perspiration, and ultraviolet (UV) light are increased. Other exacerbating conditions / factors may include trauma, menstruation, and certain drugs (eg, lithium, oral corticosteroids).
The lesions of Darier disease may be pruritic, painful, or malodorous. These symptoms, along with the appearance of the lesions, may lead to significant psychosocial distress. Patients are also at an increased risk of bacterial or viral skin infections.
Linear, segmental, or unilateral presentations are uncommon variants of the disease caused by mutations in the same gene.
Q82.8 – Other specified congenital malformations of skin
48611009 – Darier's disease
Differential Diagnosis & Pitfalls
- Confluent and reticulated papillomatosis
- Seborrheic dermatitis
- Grover disease (transient acantholytic disease) has similar biopsy findings but has a different age of onset (eg, fourth or fifth decade).
- Follicular atopic dermatitis (eczema) has a similar distribution, as do follicular occlusion syndromes, perforating disorders, granuloma annulare, and some tumors of the appendages.
- Hailey-Hailey disease is more erosive and also more common in intertriginous areas.
- Pemphigus foliaceus
- Acanthosis nigricans
- Drug-induced gingival hypertrophy
- Denture-induced hyperplasia
- Oral squamous cell carcinoma
- Oral leukemic infiltration
- Granulomatosis with polyangiitis
- Kaposi sarcoma (AIDS-associated and non-AIDS-associated)
- Acrokeratosis verruciformis of Hopf – An isolated finding in the absence of Darier disease; conditions are allelic.
- Flat warts
- Epidermodysplasia verruciformis