Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)
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Term information
definition
A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of 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 that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant.
Term relations
Subclass of:
- Autosomal dominant hereditary disorder (disorder)
- Hereditary palmoplantar keratoderma (disorder)
- Alopecia (disorder)
- Alopecia (disorder) and Hereditary palmoplantar keratoderma (disorder) and Autosomal dominant hereditary disorder (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Dysplasia (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Ectoderm structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Hyperkeratosis (morphologic abnormality) and
Finding site (attribute) some Skin structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Absence (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Hair structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))