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Autosomal dominant palmoplantar keratoderma and congenital alopecia
Disease definition
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
ORPHA:1010
Classification level: Disorder- Synonym(s):
- Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
- PPK-CA, Stevanovic type
- Palmoplantar keratoderma and congenital alopecia, Stevanovic type
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q82.8
- OMIM: 104100
- UMLS: C1863093
- MeSH: -
- GARD: 604
- MedDRA: -
Summary
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.
Differential diagnosis
Palmoplantar keratoderma and congenital alopecia/hypotrichosis is also found in ectodermal dysplasias and keratinization disorders, including hydrotic ectodermal dysplasia; hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome; KID syndrome; odonto-onycho-dermal dysplasia; Lelis syndrome; mutilating palmoplantar keratoderma with periorificial keratotic plaques; and Schöpf-Schulz-Passarge syndrome.
Genetic counseling
Transmission appears to be autosomal dominant.
Additional information