Trichorrhexis invaginata

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Trichorrhexis invaginata
Other namesBamboo hair[1]
SpecialtyDermatology Edit this on Wikidata

Trichorrhexis invaginata is a distinctive hair shaft abnormality that may occur sporadically, either in normal hair or with other hair shaft abnormalities, or regularly as a marker for Netherton syndrome.[1]: 638 [2]: 766–7  The primary defect appears to be abnormal keratinization of the hair shaft in the keratogenous zone, allowing for intussusception of the fully keratinized and hard distal shaft into the incompletely keratinized and soft proximal portion of the shaft.[1]: 638 [3]

Genetics

"Bamboo hair" is a rare autosomal recessive

growth retardation, skin infection, increased stratum corneum protease activities, and elevated kallikrein levels in the stratum corneum.[4][5]

Trichorrhexis invaginata, or bamboo hair, is a

hair shaft abnormality that occurs as a result of an intermittent keratinizing defect of the hair cortex. Incomplete conversion of the sulfhydryl –SH group onto S-S disulfide bonds in the protein of the cortical fibers leads to cortical softness and subsequent invagination of the fully keratinized distal hair shaft into the softer, abnormally keratinized proximal hair shaft. Intussusception of the distal hair shaft into the proximal hair shaft results in a distinctive ball-and-socket hair shaft deformity. The affected hairs are brittle and breakage is common, resulting in short hairs.[6]

Migratory

lesions of ichthyosis linearis circumflexa may be caused by a dermal influx of inflammatory cells that undergo phagocytosis and digestion by keratinocytes, resulting in disruption of keratinization.[7]

Increased transepidermal water loss resulting from the disturbance of corneocyte barrier function in

neonates.[8][9]

Epidemiology

Approximately 200 cases of trichorrhexis invaginata (bamboo hair) have been reported in the literature, but the true incidence is not known. The incidence of trichorrhexis invaginata (bamboo hair) may be as high as 1 case in 50,000 population. Girls are affected more often by trichorrhexis invaginata (bamboo hair) than boys, but is present in all races.[10]

History

In 1937, Touraine and Solente first noted the association between hair-shaft defects (bamboo node) and ichthyosiform erythroderma. Còme first coined the term ichthyosis linearis circumflexa in 1949, although Rille had previously recorded the distinctive features of ichthyosis linearis circumflexa by 1922.[11] In 1958, Netherton described a young girl with generalized scaly dermatitis and fragile nodular hair-shaft deformities, which he termed trichorrhexis nodosa. Later, this was more appropriately renamed as trichorrhexis invaginata (bamboo hair) for a ball-and-socket–type hair-shaft deformity at the suggestion of Wilkinson et al.[12][13] In 1974, Mevorah et al. established the clinical relationship between ichthyosis linearis circumflexa and Netherton syndrome, and an atopic diathesis was found to occur in approximately 75% of patients with Netherton syndrome.[14]

See also

References

  1. ^
    ISBN 0-07-138076-0
    .
  2. ISBN 0-7216-2921-0
    .
  3. ISBN 978-1-4160-2999-1
    .
  4. PMID 20179351
    .
  5. PMID 20657595
    .
  6. PMID 10712206
    .
  7. S2CID 9054644
    .
  8. ISSN 1015-8146
    .
  9. S2CID 30240248
    .
  10. ^ Traupe H. The Ichthyoses. A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin: Springer Verlag, 1989.
  11. ^ Ali M, Marks R, Young E, et al. Netherton's syndrome. A familial occurrence. Br J Dermatol. 1998.
  12. PMID 13582191
    – via MEDLINE Abstract.
  13. ^ Fruhwald R. Zur frage der comelschen krankheit. Dermatol Wochenschr. 1949;150:289.
  14. ^ Mevorah B, Frenk E, Brooke EM. Ichthyosis linearis circumflexa comel. A clinico-statistical approach to its relationship with Netherton's syndrome. Dermatologica. 1974.

External links

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