Disease & disorder

acrokeratosis verruciformis

MONDO:0007048

A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.

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Synonyms5

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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Background context

Acrokeratosis verruciformis

Acrokeratosis verruciformis is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits. However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene. however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.