Laryngoonychocutaneous_syndrome

Laryngo-onycho-cutaneous syndrome

Laryngo-onycho-cutaneous syndrome

Medical condition

Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion.[1][2] It is characterized by abnormalities in the larynx, nails ("onycho-"), and skin ("cutaneous").[3] The disorder is only found in Punjabi Muslims and only a few cases have been reported.[4]

Quick Facts Laryngoonychocutaneous syndrome, Specialty ...

It was characterized by Pakistani dermatologist Syed Ghulam Shabbir (1923–2002)[5] in 1986.[6][7]

It may be associated with LAMA3.[8]

See also

References

  1. [1]
    Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 712. ISBN 978-1-4160-2999-1.
  2. [2]
    Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310.
  3. [3]
    "Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2020-11-01.
  4. [4]
    McLean, W. H. I. (2003-07-15). "An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Human Molecular Genetics. 12 (18): 2395–2409. doi:10.1093/hmg/ddg234. ISSN 1460-2083. PMID 12915477.
  5. [5]
    Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.
  6. [6]
    Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
  7. [7]
    Online Mendelian Inheritance in Man (OMIM): 245660
  8. [8]
    McLean WH, Irvine AD, Hamill KJ, et al. (September 2003). "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Hum. Mol. Genet. 12 (18): 2395–409. doi:10.1093/hmg/ddg234. PMID 12915477.


This Genodermatoses article is a stub. You can help Wikipedia by expanding it.
Share this article:

This article uses material from the Wikipedia article Laryngoonychocutaneous_syndrome, and is written by contributors. Text is available under a CC BY-SA 4.0 International License; additional terms may apply. Images, videos and audio are available under their respective licenses.