SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (99)

Darier disease in Adult
See also in: Anogenital,Nail and Distal Digit
Other Resources UpToDate PubMed

Darier disease in Adult

See also in: Anogenital,Nail and Distal Digit
Contributors: Shannon Wongvibulsin MD, PhD, Vivian Wong MD, PhD, Belinda Tan MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed


Darier disease, also known as keratosis follicularis or Darier-White disease, is an autosomal dominantly inherited disease caused by mutations in the ATP2A2 gene, which encodes a sarco / endoplasmic reticulum calcium-ATPase pump (SERCA2). Although disease penetrance is high, expression is variable, and sporadic mutations may occur. There is no sex predilection.

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

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Confluent and reticulated papillomatosis
  • Seborrheic dermatitis
  • Transient acantholytic dermatosis (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 folliculitis, Granuloma annulare, and some tumors of the appendages.
  • Hailey-Hailey disease is more erosive and also more common in intertriginous areas.
  • Pemphigus foliaceus
  • Acne vulgaris
  • Acanthosis nigricans
Oral manifestations:
  • Drug-induced Gingival enlargement
  • Denture-induced hyperplasia
  • Oral mucosal wart
  • Oral squamous cell carcinoma
  • Oral leukemic infiltration
  • Granulomatosis with polyangiitis
  • Kaposi sarcoma (AIDS-associated Kaposi sarcoma and Non-AIDS Kaposi sarcoma)
Acrokeratosis verruciformis-like papules:
  • Acrokeratosis verruciformis – An isolated finding in the absence of Darier disease; conditions are allelic.
  • Flat wart
  • Epidermodysplasia verruciformis
Leukodermic macules:
  • Confetti-like macules of Tuberous sclerosis
  • Flat wart
  • Vitiligo
  • Arsenical keratosis
  • Extragenital Lichen sclerosus
  • Epidermodysplasia verruciformis
  • Tinea versicolor

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Reviewed:09/12/2023
Last Updated:09/21/2023
Copyright © 2024 VisualDx®. All rights reserved.
Darier disease in Adult
See also in: Anogenital,Nail and Distal Digit
A medical illustration showing key findings of Darier disease (Cutaneous)
Clinical image of Darier disease - imageId=570062. Click to open in gallery.  caption: 'Hundreds of confluent, reddish-brown, scaly papules forming plaques on the upper chest.'
Hundreds of confluent, reddish-brown, scaly papules forming plaques on the upper chest.
Copyright © 2024 VisualDx®. All rights reserved.