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Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.
Auringer, David E; Simon, John W; Meyer, Dale R; Malone, Anthony.
Ophthalmic Plast Reconstr Surg ; 26(6): 488-9, 2010.
Article in English | MEDLINE | ID: mdl-20829732

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.


Subject(s)
Blepharoptosis/etiology , Epidermolysis Bullosa Simplex/complications , Muscular Dystrophies/complications , Ophthalmoplegia/etiology , Adolescent , Blepharoptosis/diagnosis , Blepharoptosis/metabolism , Epidermolysis Bullosa Simplex/diagnosis , Epidermolysis Bullosa Simplex/metabolism , Humans , Male , Muscular Dystrophies/diagnosis , Muscular Dystrophies/metabolism , Ophthalmoplegia/diagnosis , Ophthalmoplegia/metabolism , Plectin/deficiency
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