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
The scalp hair is sparse, short and curly. It grows slowly and stops growing after a few inches.
Genetics
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
This is rare disorder. Precise estimates of its prevalence are not known.
Diagnosis
This is made by light microscopy. A number of structural anomalies are visible under light microscopy including trichorrhexis nodosa and tapered ends.
Differential diagnosis
- Cardiofaciocutaneous syndrome
- Naxos disease
- Palmoplantar keratoderma and cardiomyopathy syndrome[2]
Treatment
There is no treatment for this condition known at present.
Prognosis
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.