Autosomal recessive palmoplantar keratoderma and congenital alopecia

Alternate names

Cataract, alopecia, sclerodactyly syndrome; CASS; Cataract, alopecia, sclerodactyly

Definition

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.

Epidemiology

• To date, autosomal recessive PPK-CA has been reported in two families (seven affected individuals).
• An additional sporadic patient was likely affected by the same condition.

Cause

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

Inheritance

Autosomal recessive inheritance, a 25% chance

Transmission appears to be autosomal recessive.

Signs and symptoms

• Similarly to the dominant variant, autosomal recessive 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.
• Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces.
• Periungueal involvement is typical and leads to secondary nail dystrophy.
• Autosomal recessive PPK-CA shows a relatively more severe evolution compared to the dominant variant as many patients develop sclerodactyly, small joint contractures and pseudo-ainhum.
• The original family also had congenital cataract.

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

• Alopecia totalis
• Aplasia/Hypoplasia of the skin(Absent/small skin)
• Atypical scarring of skin(Atypical scarring)
• Cataract(Clouding of the lens of the eye)
• Joint stiffness(Stiff joint)
• Lack of skin elasticity
• Nail dystrophy(Poor nail formation)
• Palmoplantar keratoderma(Thickening of palms and soles)
• Subcutaneous nodule(Firm lump under the skin)
• Visual impairment(Impaired vision)

NIH genetic and rare disease info

• NIH info on Autosomal recessive palmoplantar keratoderma and congenital alopecia

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

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