Laryngo-onycho-cutaneous syndrome
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Updated: Jun 18, 2026

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Published on: March 18, 2020
Heather Irina Cohn1, Dédée F Murrell
1Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Bluemle Life Sciences Building, 233 South 10th Street, Suite 450, Philadelphia, PA 19107, USA.
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.
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