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Laryngo-onycho-cutaneous syndrome

Field	Value
name	Laryngoonychocutaneous syndrome
image	Autosomal recessive - en.svg
caption	This condition is inherited in an autosomal recessive manner.
field	Dermatology

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

It was characterized by Pakistani dermatologist Syed Ghulam Shabbir (1923–2002) in 1986.

It may be associated with LAMA3.

References

Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
(2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers.
"Laryngo-onycho-cutaneous syndrome: MedlinePlus Genetics".
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.
[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.
{{OMIM. 245660
(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..

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genodermatoses syndromes-affecting-the-skin

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