Laryngo-onycho-cutaneous syndrome.
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.
Cohn
Heather Irina
HI
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.
Murrell
Dédée F
DF
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
D015815:Cell Adhesion Molecules; D000097794:Kalinin