View source for Laryngo-onycho-cutaneous syndrome

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| name            = Laryngoonychocutaneous syndrome
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| image           = Autosomal recessive - en.svg
| caption         = This condition is inherited in an autosomal recessive manner.
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| field           = [[Dermatology]]
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'''Laryngo-onycho-cutaneous syndrome''' (also known as '''Shabbir syndrome''') is a rare [[epithelial]] disorder inherited in an [[autosomal recessive]] fashion.<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=712 |isbn=978-1-4160-2999-1 }}</ref><ref>{{Cite journal|last1=Bardhan|first1=Ajoy|last2=Bruckner-Tuderman|first2=Leena|last3=Chapple|first3=Iain L. C.|last4=Fine|first4=Jo-David|last5=Harper|first5=Natasha|last6=Has|first6=Cristina|last7=Magin|first7=Thomas M.|last8=Marinkovich|first8=M. Peter|last9=Marshall|first9=John F.|last10=McGrath|first10=John A.|last11=Mellerio|first11=Jemima E.|date=2020-09-24|title=Epidermolysis bullosa|url=https://www.nature.com/articles/s41572-020-0210-0|journal=Nature Reviews Disease Primers|language=en|volume=6|issue=1|page=78|doi=10.1038/s41572-020-0210-0|pmid=32973163|s2cid=221861310|issn=2056-676X}}</ref> It is characterized by abnormalities in the [[larynx]], [[Nail (anatomy)|nails]] ("[[wikt:onycho-#English|onycho-]]"), and skin ("cutaneous").<ref>{{Cite web|title=Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics|url=https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome/|access-date=2020-11-01|website=medlineplus.gov|language=en}}</ref> The disorder is only found in [[Punjabi Muslims]] and only a few cases have been reported.<ref>{{Cite journal|last=McLean|first=W. H. I.|date=2003-07-15|title=An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome|journal=Human Molecular Genetics|language=en|volume=12|issue=18|pages=2395–2409|doi=10.1093/hmg/ddg234|pmid=12915477|issn=1460-2083|doi-access=}}</ref>
It was characterized by Pakistani dermatologist [[Syed Ghulam Shabbir]] (1923–2002)<ref>[http://www.jpad.com.pk/index.php/jpad/article/download/403/378 Journal of Pakistan Association of Dermatologists 2010; 20: 125-127.]</ref> in 1986.<ref>Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases.  Biomedica 2: 15-25, 1986.</ref><ref>{{OMIM|245660}}</ref>
It may be associated with ''[[LAMA3]]''.<ref name="pmid12915477">{{cite journal  |vauthors=McLean WH, Irvine AD, Hamill KJ, etal |title=An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome |journal=Hum. Mol. Genet. |volume=12 |issue=18 |pages=2395–409 |date=September 2003 |pmid=12915477 |doi=10.1093/hmg/ddg234 |doi-access= }}</ref>
== See also ==
* [[Watson syndrome]]
* [[List of cutaneous conditions]]
== References ==
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== External links ==
* [https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome/ Laryngo-onycho-cutaneous syndrome] on [[MedlinePlus]]
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{{Scleroprotein disease}}
[[Category:Genodermatoses]]
[[Category:Syndromes affecting the skin]]
{{Genodermatoses-stub|}}