| Literature DB >> 19945620 |
Heather Irina Cohn1, Dédée 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.Entities:
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Year: 2010 PMID: 19945620 DOI: 10.1016/j.det.2009.10.010
Source DB: PubMed Journal: Dermatol Clin ISSN: 0733-8635 Impact factor: 3.478