title: 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.
authors: Department 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.
authors: Heather Irina
authors: HI
authors: Cohn
authors: Dédée F
authors: DF
authors: Murrell
mesh_terms: D015815:Cell Adhesion Molecules / Q000235:genetics; D003229:Conjunctival Diseases / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007194:India; D007818:Laryngeal Diseases / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D000097794:Kalinin