Laryngo-onycho-cutaneous syndrome

Dermatologic Clinics
Heather Irina Cohn, Dedee F Murrell

Abstract

Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique mutation affecting the N terminus of the alpha3 chain of LM332. Although LOC syndrome is now a subtype of JEB(JEB-LOC) JEB-LOC has a distinct clinicopathologic appearance and molecular fingerprint. The intricacies of the JEB-LOC subtype are discussed in this article with regard to disease presentation, pathogenesis, management, and prognosis.

References

Apr 1, 1994·Archives of Disease in Childhood·R J PhillipsB D Lake
Feb 13, 2001·Human Molecular Genetics·J A McGrathH van Bokhoven
Jun 15, 2005·Clinical and Experimental Dermatology·K J Hamill, W H I McLean
Jun 28, 2005·Matrix Biology : Journal of the International Society for Matrix Biology·Monique AumailleyPeter D Yurchenco
Nov 17, 2006·The British Journal of Dermatology·R M StraussJ A Newton-Bishop

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Citations

May 8, 2010·Dermatologic Clinics·Dédée F Murrell
Jul 30, 2015·International Journal of Dermatology·Mohammadreza BarzegarParviz Toossi
Nov 13, 2015·Indian Journal of Pediatrics·Sumantra SarkarMadhumita Nandi
Aug 16, 2016·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·C ProdingerM Laimer
Feb 19, 2017·Journal of the European Academy of Dermatology and Venereology : JEADV·C ProdingerM Laimer
Nov 18, 2020·Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry·Susanne KrämerVictoria Clark

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