Ringed Hair

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OMIM 56 180600 MESH via Orphanet 44 C537187 ICD10 via Orphanet 33 Q84.1 UMLS via Orphanet 72 C0263489

Orphanet 58 ORPHA169 MedGen 41 C0263489 SNOMED-CT via HPO 68 247546006 263681008 UMLS 71 C0263489

NIH Rare Diseases : ⁵² Pili annulati is a hair disorder. In pili annulati, affected hair has a pattern of light and dark banding. People with pili annulati may describe their hair as "striped" or as having silvery beads. Pili annulati typically involves 20-80% of scalp hair, however it can involve facial and body hair as well. Affected hairs may be more prone to breakage. Pili annulati can present in infancy, childhood, or later in life. It can be seen with the naked eye, however it may be more difficult to see in people with dark hair. Diagnosis is confirmed by polariscopic and/or electron microscopic examination of affected hairs. The condition runs in an autosomal dominant fashion in some families. Reduced penetrance and variable expression has been described. Sporadic cases have also been reported.

MalaCards based summary : Ringed Hair, also known as pili annulati, is related to pilodental dysplasia with refractive errors and pseudopili annulati. Affiliated tissues include eye, skin and cortex, and related phenotypes are fine hair and abnormal hair pattern

OMIM : ⁵⁶ Pili annulati, or 'ringed hair,' is a disorder in which scalp hairs show alternating light and dark bands. It is often an incidental finding, and the hair usually does not show increased fragility (Green et al., 2004). See also pseudopili annulati (613241), a distinct entity. (180600)

Wikipedia : ⁷⁴ Pili annulati (also known as "ringed hair") is a genetic trait in which the hair seems banded by... more...

Clinical features from OMIM:

180600

Search Clinical Trials , NIH Clinical Center for Ringed Hair

Search GEO for disease gene expression data for Ringed Hair.