Medicine:Laryngo-onycho-cutaneous syndrome

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Laryngoonychocutaneous syndrome
SpecialtyDermatology

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]

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. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 712. ISBN 978-1-4160-2999-1. 
  2. ↑ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter et al. (2020-09-24). "Epidermolysis bullosa" (in en). Nature Reviews Disease Primers 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. https://www.nature.com/articles/s41572-020-0210-0. 
  3. ↑ "Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome/. 
  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" (in en). Human Molecular Genetics 12 (18): 2395–2409. doi:10.1093/hmg/ddg234. ISSN 1460-2083. PMID 12915477. 
  5. ↑ Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.
  6. ↑ Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
  7. ↑ Online Mendelian Inheritance in Man (OMIM) 245660
  8. ↑ "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. September 2003. doi:10.1093/hmg/ddg234. PMID 12915477. 

External links

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