Hypopigmentation-punctate palmoplantar keratoderma syndrome
Name: |
Hypopigmentation-punctate palmoplantar keratoderma syndrome
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Description: |
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.
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ORPHAcode: |
324561
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Synonyms: |
Cole disease
Guttate hypopigmentation and punctate palmoplantar keratoderma
Hypopigmentation and punctate keratosis of the palms and soles
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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