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Related Experiment Video

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Lipoid proteinosis: A rare entity.

Bipasha Mukherjee, Pratheeba N Devi1

  • 1Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.

Indian Journal of Ophthalmology
|November 19, 2015
PubMed
Summary

Urbach-Wiethe syndrome, also known as lipoid proteinosis, is a rare genetic disorder affecting skin and organs. Early recognition by ophthalmologists is vital for managing potential complications like respiratory distress.

Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Urbach-Wiethe syndrome (lipoid proteinosis) is a rare autosomal recessive genetic disorder.
  • Characterized by hyaline material deposition in various tissues, including skin, eyes, and larynx.

Observation:

  • Clinical manifestations include skin scarring, beaded eyelid papules (moniliform blepharosis), and hoarseness due to laryngeal infiltration.
  • Ocular findings can significantly impact patient well-being and require specialized attention.

Findings:

  • Histological examination reveals infiltration of Periodic acid Schiff-positive hyaline material.
  • The disorder can lead to severe systemic complications, such as respiratory distress and seizures.

Implications:

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  • Increased awareness among ophthalmologists is crucial for timely diagnosis and management of lipoid proteinosis.
  • Prompt identification can prevent severe complications and improve patient outcomes.