Woolly hair autosomal recessive
Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair.[1] Signs/symptomsThe scalp hair is sparse, short and curly. It grows slowly and stops growing after a few inches. GeneticsThis 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. EpidemiologyThis is rare disorder. Precise estimates of its prevalence are not known. DiagnosisThis is made by light microscopy. A number of structural anomalies are visible under light microscopy including trichorrhexis nodosa and tapered ends. Differential diagnosisTreatmentThere is no treatment for this condition known at present. PrognosisIn 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. ReferencesExternal linksInformation related to Woolly hair autosomal recessive |