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Acrokeratosis verruciformis in Adult
Other Resources UpToDate PubMed

Acrokeratosis verruciformis in Adult

Contributors: Kimberley R. Zakka MD, Amy Fox MD, David Dasher MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Acrokeratosis verruciformis (AKV) is a rare autosomal dominant genodermatosis characterized by verrucous lesions on the dorsal hands and feet. It typically presents during childhood but can arise in up to the fifth decade.

AKV typically presents with closely grouped verrucous papules on the dorsal hands and feet, elbows, and knees, with occasional punctate keratoses of the acral surfaces. Papules often develop in childhood and increase in number throughout adolescence. They can also be present at birth. Nails may also be affected, with changes including striations, subungual hyperkeratosis, and distal nail V-shaped nicking.

AKV arises from a single genetic defect to the ATP2A2 gene on chromosome 12 that affects calcium transport in the sarcoendoplasmic reticulum and leads to disordered keratinization. The pattern of inheritance of AKV is autosomal dominant with incomplete penetrance, so a positive family history may not always be present. Sporadic cases have also been reported. There is no sex or racial / ethnic predilection.

Much of the published research on AKV has explored its relationship to Darier disease, as both conditions are caused by mutations in ATP2A2, making AKV and Darier disease allelic.

The natural course of the condition is chronic, without spontaneous remission. It is generally benign, but rare cases of malignant transformation to squamous cell carcinoma have been reported.

Codes

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

SNOMEDCT:
400018004 – Acrokeratosis verruciformis of Darier disease
400085009 – Acrokeratosis verruciformis of Hopf

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Verruca vulgaris – Even in cases of multiple verrucae, the symmetrical distribution of AKV will not been seen.
  • Flat warts – Individual lesions may clinically resemble AKV. Distribution of lesions may assist with diagnosis, but biopsy may be needed for definitive diagnosis.
  • Darier disease – Thought to be allelic to AKV with classic clinical presentation of malodorous crusted papules coalescing into plaques in a seborrheic distribution. Other clinical findings may include leucodermic macules, cobblestone plaques in the mouth, and similar nail changes to AKV.
  • Epidermodysplasia verruciformis – Rare autosomal recessive condition with diffuse verrucous lesions, which are at risk of developing squamous cell carcinoma due to human papillomavirus infection. Histology shows characteristic clear cell changes with small pyknotic nucleoli throughout the epidermis. Verrucous papules will occur in locations beyond dorsal hands and feet, which can be beneficial in excluding this diagnosis.
  • Stucco keratoses
  • Seborrheic keratoses
  • Flegel 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:01/24/2022
Last Updated:01/27/2022
Copyright © 2022 VisualDx®. All rights reserved.
Acrokeratosis verruciformis in Adult
A medical illustration showing key findings of Acrokeratosis verruciformis : Subungual hyperkeratosis, Verrucous scaly papules, Knees
Clinical image of Acrokeratosis verruciformis - imageId=2225855. Click to open in gallery.  caption: 'Numerous discrete, hypopigmented, scaly papules around the ankles.'
Numerous discrete, hypopigmented, scaly papules around the ankles.
Copyright © 2022 VisualDx®. All rights reserved.