Rare Diseases Symptoms Automatic Extraction

Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.

[epidermolysis bullosa simplex]

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.

Diseases presenting "ophthalmoplegia" symptom

  • epidermolysis bullosa simplex
  • homocystinuria without methylmalonic aciduria
  • locked-in syndrome
  • malignant atrophic papulosis
  • sneddon syndrome
  • waldenström macroglobulinemia

This symptom has already been validated