Autosomal dominant palmoplantar keratoderma and congenital alopecia

Alternate names

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

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.

Cause

The genetic basis of autosomal dominant PPK-CA is unknown.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Transmission appears to be autosomal dominant.

Signs and symptoms

• 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

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)

NIH genetic and rare disease info

• NIH info on Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar keratoderma and congenital alopecia is a rare disease.

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