Laryngo-onycho-cutaneous syndrome

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.