Ringed Hair

McCleary, Jack E.; Montgomery, Hamilton

doi:10.1001/archderm.1955.01540280102028

AMA Arch Derm

1955

DOI: 10.1001/archderm.1955.01540280102028

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Ringed Hair

Jack E. McCleary¹,

Hamilton Montgomery²

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Cited by 2 publications

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“…There is no association with hair fragility. Most reported familial cases have been inherited in an autosomal dominant fashion (Cady and Trotter, 1922;Snell and Foley, 1922;Reyn, 1934;Ashley and Jacques, 1950;McCleary and Montgomery, 1955;Dawber, 1972;Lama et al, 1988;Misciali et al, 1993). There have been no previously published genetic linkage studies of PA to date.…”

mentioning

confidence: 99%

A Gene for Pili Annulati Maps to the Telomeric Region of Chromosome 12q

Green

Fitzpatrick

Berker

et al. 2004

Journal of Investigative Dermatology

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Pili annulati (PA) is a rare hair shaft disorder characterized by discrete banding of hairs. We studied two families with PA in which the disorder segregated in an autosomal dominant fashion. All family members were clinically examined and hair samples were examined under the light microscope. In family G, of 19 individuals examined, ten were affected, over three generations. In family B, there were three affected individuals of seven examined over three generations. A genome-wide scan of family G revealed a maximum logarithm of odds (LOD) of linkage score of 3.89 at marker D12S1723 at the telomeric region of chromosome 12q. From one critical recombinant in family G, the locus was narrowed down to a 9.2 cM region between D12S367 and the end of chromosome 12q. In family B linkage at the telomeric region of chromosome 12q also revealed a maximum LOD score of 0.89 at marker D12S1723. A combined LOD score, assuming no locus heterogeneity between the families was 4.78. Frizzled 10, which is located within the region, was sequenced but we were unable to detect a mutation causing PA. This study, for the first time, identifies a genetic locus for PA.

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mentioning

confidence: 99%

A Gene for Pili Annulati Maps to the Telomeric Region of Chromosome 12q

Green

Fitzpatrick

Berker

et al. 2004

Journal of Investigative Dermatology

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Pathogenesis of pili annulati

et al. 1988

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Plucked scalp hairs and hair roots of pili annulati were examined to understand their pathogenesis. Stereoscopic examinations of hairs in transmitted light and/or reflected light and light microscopic surveys of the cross-sections of hairs confirmed that the cortical empty spaces appeared to be responsible to the unique dotted shiny appearance of the hairs seen by the unaided eyes under a refracted light. By transmission electron microscope, small vacuoles and dense bodies were observed in the cytoplasm of the differentiating cortical cells; subsequently, with increasing number of tono-filaments, an uneven distribution of free ribosomes occurred and abnormal spaces containing fine granular substances were formed in the cytoplasm of the cortical cells. Occasionally, extremely large cortical trichohyaline granules were found. In the keratinized hair, irregular empty spaces were present in the cortex of the abnormal hair segments. Histochemically, the keratinized cortex of the affected hairs always had more residual SH groups than the controls. Pili annulati may be a disorder of protein metabolism involving a partial dysfunction of cytoplasmic ribosomes, resulting in a lack of cortical keratin formation.

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Ringed Hair

Cited by 2 publications

References 2 publications

A Gene for Pili Annulati Maps to the Telomeric Region of Chromosome 12q

A Gene for Pili Annulati Maps to the Telomeric Region of Chromosome 12q

Pathogenesis of pili annulati

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