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Darier Disease

Autosomal dominant keratinizing disorder caused by ATP2A2 mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dermatoloji department. Book Appointment →

What is Darier Disease?

Darier disease (keratosis follicularis) is an autosomal dominant disorder caused by mutations in ATP2A2, which encodes the SERCA2 calcium pump. Disrupted keratinocyte adhesion produces characteristic acantholysis and dyskeratosis.

Onset is typically during adolescence with greasy hyperkeratotic papules in seborrheic distribution (chest, back, scalp, scalp margins, ears, neck), palmar pits, V-shaped nail nicks and longitudinal red and white lines on the nails.

Flares are triggered by ultraviolet light, heat, sweating and bacterial or herpetic superinfection. Diagnosis is clinical and supported by skin biopsy.

Symptoms

Greasy hyperkeratotic papules in seborrheic areas
Foul-smelling lesions in flexures
Nail abnormalities (V-shaped notches, longitudinal stripes)
Palmar and plantar pits
Pruritus and burning
Intolerance to sun, heat and sweating
Cognitive or mood symptoms in some pedigrees

Risk Factors

Affected first-degree relative
ATP2A2 pathogenic variant
Sun exposure and heat
Friction and occlusion of intertriginous skin
Bacterial or herpes simplex infection

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent seborrheic-distribution papules with foul odor
  • Suspected herpetic superinfection (Kaposi's varicelliform)
  • Painful flexural maceration
  • Family history of Darier disease
  • Severe nail dystrophy or pruritus

Treatment Methods

01
Sun protection and avoidance of heat/occlusion
02
Topical retinoids and emollients
03
Topical corticosteroids for flares
04
Oral retinoids (acitretin or isotretinoin) in severe disease
05
Antiseptic washes and prompt antibiotics/antivirals
06
Surgical or laser ablation of refractory plaques

Which Department to Visit?

You can visit our Dermatoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.