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The International Journal on Orbital Disorders, Oculoplastic and Lacrimal Surgery
Volume 30, 2011 - Issue 5
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Case Reports

Eyelid Lesions in Lipoid Proteinosis or Urbach-Wiethe Disease: Case Report and Review of the Literature

, MD, , MD, PhD, , MD, , MD, , MD & , MD
Pages 242-244 | Received 07 Feb 2011, Accepted 04 Apr 2011, Published online: 29 Sep 2011

REFERENCES

  • Giandomenico S, Masi R, Cassandrini D, et al. Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 2006;26:162–167.
  • Hamada T, McLean WH, Ramsay M, et al. Lipoid proteinosis maps tp 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002; 11:833–840.
  • Irkeç M, Orhan M, Orhan D, et al. Dry eye syndrome associated with Urbach-Wiethe disease. J Pediatr Ophthalmol Strabismus 1996;33:265–268.
  • Mandal S, Dutta P, Venkatesh P, et al. Bilateral lens subluxation in a case of lipoid proteinosis. J Cataract Refract Surg 2007;33:1469–1470.
  • Rosenthal AR, Duke JR. Lipoid proteinosis: case report of direct lineal transmission. Am J Ophthalmol 1967;64:1120–1125.
  • Sellami D, Masmoudi A, Turki H, et al. Manifestations ophtalmologiques de la hyalionse cutanéo-muqueuse [Ophthalmic manifestations of lipoid proteinosis.]. Presse Med 2006;35:796–798.
  • Sharma V, Kashyap S, Betharia SM, et al. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions. Clin Experiment Ophthalmol 2004;32:110–112.
  • Thappa DM, Gupta S. Images in clinial practice. Eyelid beading–A useful diagnostic clue for lipoid proteinosis. Indian Pediatr 2001;38:97.

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