Autosomal recessive palmoplantar keratoderma and congenital alopecia
Alternate names[edit | edit source]
Cataract, alopecia, sclerodactyly syndrome; CASS; Cataract, alopecia, sclerodactyly
Definition[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
The genetic basis of autosomal recessive PPK-CA is unknown.
Inheritance[edit | edit source]
Transmission appears to be autosomal recessive.
Signs and symptoms[edit | edit source]
- 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[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
- 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)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Autosomal recessive palmoplantar keratoderma and congenital alopecia is a rare disease.
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