Autosomal dominant palmoplantar keratoderma and congenital alopecia
Alternate names[edit | edit source]
Alopecia congenita with hyperkeratosis of the palms and soles; PPK-CA, Stevanovic type; Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; Palmoplantar keratoderma and congenital alopecia, Stevanovic type
Definition[edit | edit source]
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Epidemiology[edit | edit source]
To date, ten individuals with a clinical diagnosis of autosomal dominant palmoplantar keratoderma and congenital alopecia (PPK-CA) have been reported.
Cause[edit | edit source]
The genetic basis of autosomal dominant PPK-CA is unknown.
Inheritance[edit | edit source]
Transmission appears to be autosomal dominant.
Signs and symptoms[edit | edit source]
- 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.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Congenital alopecia totalis
- Palmoplantar hyperkeratosis(Thickening of the outer layer of the skin of the palms and soles)
- Palmoplantar keratoderma(Thickening of palms and soles)
30%-79% of people have these symptoms
- Fingernail dysplasia(Abnormal fingernail development)
1%-4% of people have these symptoms
- Abnormality of skin pigmentation(Abnormal pigmentation)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Autosomal dominant palmoplantar keratoderma and congenital alopecia is a rare disease.
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