title: Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.
abstract: The association of epidermolysis bullosa simplex and muscular dystrophy (EBS-MD) has rarely been discussed in ophthalmology literature. This case report offers a brief summary of epidermolysis bullosa and describes what is known about EBS-MD. The case involves a patient with EBS-MD who presented with ptosis and ophthalmoplegia, suggesting that these may be complications of EBS-MD.
authors.affiliation: Department of Ophthalmology, Lions Eye Institute, Albany Medical College, Albany, New York, USA. auringd@mail.amc.edu
authors.forename: David E
authors.initials: DE
authors.lastname: Auringer
authors.forename: John W
authors.initials: JW
authors.lastname: Simon
authors.forename: Dale R
authors.initials: DR
authors.lastname: Meyer
authors.forename: Anthony
authors.initials: A
authors.lastname: Malone
mesh_terms: D000293:Adolescent; D001763:Blepharoptosis / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D016110:Epidermolysis Bullosa Simplex / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D051190:Plectin / Q000172:deficiency
chemical_list: D051190:Plectin