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Woolly hair autosomal recessive

Field	Value
name	Autosomal recessive woolly hair
image	Autosomal recessive - en.svg
caption	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.

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

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.

References

Hutchinson P E, Cairns R J, Wells RS (1974) Woolly hair: clinical and general aspects. Trans St John's Hosp Derm Soc 60:160-177
Carvajal-Huerta, L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Derm 39:418-421

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

hair-diseases

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