Dyskeratosis follicularis (Darier)

ICD-11

EC20.2

Synonyms

Darier’s disease, Morbus Darier, Morbus Darier-White.

Epidemiology

Incidence 1:30,000–100,000. Men are more severely affected than women. Start in early life or adolescence. Life expectancy normal.

Definition

Autosomal dominant inherited, acantholytic cornification disorder of epidermis, hair follicles and nails.

Aetiology & Pathogenesis

A mutation on chromosome 12 leads to disruption calcium ATPase. The formation of desmosomal tonofilaments and the differentiation of keratinocytes is disturbed, resulting in acantholysis. Trigger factors: UV light, sweating, virus infections (herpes simplex), caffeine, alcohol, stress.

Signs & Symptoms

Skin: small grayish-brown, itchy keratotic papules; occasionally confluent, weeping, foul-smelling. Punctiform interruptions of the papillary strip structure on the fingers and toes. Verrucous papules on the back of the hand are also known as Acrokeratosis verruciformis Hopf.
Oral mucosa and hard palate: leukoplakia-like changes with small papules.
Nails: dystrophy with formation of grooves and subungual hyperkeratosis.

Localisation

Seborrheic regions: centrofacial, scalp, axillary region, central breast and back regions, inguinal region, anogenital.

Classification

Special form: Verrucous papules on the back of the hand are also referred to as Acrokeratosis verruciformis Hopf.

Laboratory & other workups

Skin biopsy.

Dermatopathology

Dyskeratosis: defective differentiation of keratinocytes with corps ronds (eosinophilic cells in Str. spinosum) and corps grains (granular nuclear residues in St. Granulosum) Verrucous hyperkeratosis, especially in acrokeratosis verruciformis Hopf.
Acantholysis: suprabasal cleft formation with numerous eosinophilic granulocytes.

Course

Chronic with worsening in the first years of illness.

Complications

Superinfection.

Diagnosis

Clinical and histological picture.

Differential diagnosis

Seborrheic dermatitis, pemphigus benignus familiaris (Hailey-Hailey), transient acantholytic dermatosis (Grover's disease), pemphigus vegetans (intertriginous), acanthosis nigricans, verrucous epidermal nevi.

Prevention & Therapy

Prevention: Avoidance of direct exposure to the sun (UV; Sweating).

Topical: Retinoids, antiseptic baths, short-term weak glucocorticosteroids.

Systemic: Acitretin, in need of (superinfection) Antibiotica.

Surgical: exceptionally dermabrasion, laser.

Special

Grover's disease (transitory acantholytic dermatosis) is an important differential diagnosis predominantly in older men with a tendency to relapse after transient phases of regression.

6.1.6 Dyskeratosis follicularis (Darier)