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Darier disease - Nail and Distal Digit
See also in: Overview,Anogenital
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Darier disease - Nail and Distal Digit

See also in: Overview,Anogenital
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Contributors: Shari Lipner MD, PhD, Bertrand Richert MD, Robert Baran MD
Other Resources UpToDate PubMed

Synopsis

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 involves both abnormal keratinization and epidermal cell-to-cell adhesion.

Dermatologic findings usually present in early adolescence to mid-adult life. Cutaneous findings include greasy hyperkeratotic papules in a seborrheic distribution, along with palmoplantar pits and acrokeratosis verruciformis-like papules. Leukodermic macules are a rarely reported finding. These small macules occur most frequently on the ventral aspect of limbs and trunk.

In additional 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 the cutaneous disease.

Nail findings are seen in 92%-95% of patients with Darier disease. In addition, nails with multiple red and white bands resembling candy canes are pathognomonic for Darier disease. These findings may be accompanied by one or more V-shaped notches in the free edges of the nails. A wedge-shaped subungual keratosis may also be seen. Typically, 2 or 3 nails may be affected; rarely, all 20 nails may be involved. Toenails are affected less frequently than fingernails. There is rarely an association of twenty-nail dystrophy with Darier disease.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
48611009 – Darier's disease

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Differential diagnosis of nail findings (mainly any disease process that can cause erythronychia; note that the presence of both leukonychia and erythronychia are required to diagnose Darier disease):

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 05/14/2018
Last Updated: 06/22/2018
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Darier disease - Nail and Distal Digit
See also in: Overview,Anogenital
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Darier disease : Chronic duration lasting years, Longitudinal red nail streaks, Longitudinal white nail streaks, Superior chest, Nail thickening, Scaly papules
Clinical image of Darier disease
Hundreds of confluent, reddish-brown, scaly papules forming plaques on the upper chest.
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