Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.
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.
Auringer
David E
DE
Department of Ophthalmology, Lions Eye Institute, Albany Medical College, Albany, New York, USA. auringd@mail.amc.edu
Simon
John W
JW
Meyer
Dale R
DR
Malone
Anthony
A
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
D051190:Plectin