Laryngo-onycho-cutaneous syndrome explained
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]
It may be associated with LAMA3.[7]
See also
External links
Notes and References
- Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 712 . 978-1-4160-2999-1 .
- 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. en. 6. 1. 78. 10.1038/s41572-020-0210-0. 32973163. 221861310. 2056-676X.
- Web site: Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics. 2020-11-01. medlineplus.gov. en.
- 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. en. 12. 18. 2395–2409. 10.1093/hmg/ddg234. 12915477. 1460-2083.
- http://www.jpad.com.pk/index.php/jpad/article/download/403/378 Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.
- Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
- McLean WH, Irvine AD, Hamill KJ, etal . 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 . 12915477 . 10.1093/hmg/ddg234 .
