Laryngo-onycho-cutaneous syndrome

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Laryngoonychocutaneous syndrome
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.
Specialty Dermatology

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]

Contents

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. p. 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; 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. ↑ "Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2020-11-01.
  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. ↑ 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. ↑ 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.


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