Hypopigmentation-punctate palmoplantar keratoderma syndrome

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Synonyms: Cole disease | Guttate hypopigmentation and punctate palmoplantar keratoderma | Hypopigmentation and punctate keratosis of the palms and soles

A rare genetic epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy calcinosis cutis) and pachyonychia may be occasionally associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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