Woolly hair autosomal recessive
| Autosomal recessive woolly hair | |
|---|---|
 | |
| Autosomal recessive pattern is the inheritance manner of this condition | |
| Causes | Mutations in the LIPH, LPAR6 or KRT2 genes |
Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair.[1]
Signs/symptoms[edit]
The scalp hair is sparse, short and curly. It grows slowly and stops growing after a few inches.
Genetics[edit]
This condition may be part of a more complex syndrome or an isolated mutation.
Isolated cases are due to mutations in the lipase member H (LIPH), lysophosphatidic acid receptor 6 (LPAR6) or keratin 2A (KRT2) genes. Isolated cases are inherited in an autosomal recessive fashion.
Epidemiology[edit]
This is rare disorder. Precise estimates of its prevalence are not known.
Diagnosis[edit]
This is made by light microscopy. A number of structural anomalies are visible under light microscopy including trichorrhexis nodosa and tapered ends.
Differential diagnosis[edit]
Treatment[edit]
There is no treatment for this condition known at present.
Prognosis[edit]
In isolate cases life expectancy is normal and there are no other related problems.
As part of another syndrome this will depend on the other features of the syndrome.