Don’t fight Autosomal dominant palmoplantar keratoderma and congenital alopecia alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1010
Definition
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Epidemiology
To date, ten individuals with a clinical diagnosis of autosomal dominant palmoplantar keratoderma and congenital alopecia (PPK-CA) have been reported.
Clinical description
Autosomal dominant PPK-CA usually presents during infancy. Its very early onset is often characterized by fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features which appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern, affecting the two sides of fingers and palms, but usually sparing the palmar sides. Periungueal involvement is typical, leading to secondary nail dystrophy. Autosomal dominant PPK-CA seems to have a more benign course than autosomal recessive PPK-CA (see this term).
Etiology
The genetic basis of autosomal dominant PPK-CA is unknown. Transmission appears to be autosomal dominant.
Genetic counseling
Transmission appears to be autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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Palmoplantar keratoderma |
Congenital alopecia totalis |
Neonatal short-limb short stature |
Palmoplantar hyperkeratosis |
30%-79% of people have these symptoms.
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Fingernail dysplasia |
1%-4% of people have these symptoms.
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Abnormality of skin pigmentation |
An unknown % of people have these symptoms.
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