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

See also in: Anogenital,Nail and Distal Digit
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Contributors: Vivian Wong MD, PhD, Belinda Tan MD, PhD, Susan Burgin 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 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). Leukodermic macules are a rarely reported finding. These small macules occur most frequently on the ventral aspect of limbs and trunk. Their onset is prior to puberty. They have been recognized and reported most frequently in individuals with darker skin phototypes.

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.

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. Along with the appearance, these symptoms may lead to significant psychosocial distress. Patients are 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.

For more information, see OMIM.

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

Oral manifestations: Acrokeratosis verruciformis-like papules: Leukodermic macules:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 02/15/2018
Last Updated: 04/09/2018
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Darier disease in Child
See also in: Anogenital,Nail and Distal Digit
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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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