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Lipoid proteinosis
Roopa Shamsundar Rao1, Sunita S Betkerur, Chaitanya Babu
1Department of Oral Pathology, M. S. Ramaiah Dental College, Bangalore, Karnataka, India.
Journal of Oral and Maxillofacial Pathology : JOMFP
|September 3, 2011
Summary
Lipoid proteinosis is a rare genetic disorder causing hyaline material deposition. This case highlights its varied symptoms and potential for delayed diagnosis, emphasizing the need for increased awareness.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Lipoid proteinosis is a rare autosomal recessive disorder.
- Characterized by hyaline material deposition in skin, mucous membranes, and organs.
- Leads to diverse clinical manifestations.
Observation:
- A 62-year-old male presented with lifelong hoarseness, eyelid beading, acneiform scars, and oral papules.
- Clinical diagnosis of Lipoid proteinosis was confirmed via biopsy.
- This highlights the protean manifestations of the condition.
Findings:
- The case report describes a rare entity with approximately 250 documented cases.
- Illustrates that Lipoid proteinosis can present with varied clinical features.
- The condition may remain undiagnosed for extended periods.
Implications:
- This case report aims to increase awareness of Lipoid proteinosis.
- Encourages further research for earlier diagnosis.
- Contributes to understanding the broad clinical spectrum of this rare disease.
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