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Lipoid Proteinosis: a case report in two siblings.
Rashmi Ranjan, Khushbu Goel, Rashmi Sarkar1
1Maulana Azad Medical College and Lok Nayak Hospital.
Dermatology Online Journal
|March 18, 2015
Summary
Lipoid proteinosis, a rare genetic disorder, causes hyaline material buildup in skin and organs, leading to hoarseness and distinctive eyelid papules. This case highlights its rarity in Indian medical literature.
Area of Science:
- Genetics
- Dermatology
- Pathology
Background:
- Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder.
- It is characterized by the deposition of hyaline material in various tissues, including the skin, oral mucosa, larynx, and internal organs.
Observation:
- The condition typically presents early in life with hoarseness developing in infancy.
- A classic clinical sign is the presence of beaded eyelid papules along the lid margin, termed 'Monilform Blepherosis'.
Findings:
- Hyaline material infiltration is the hallmark pathological finding in affected tissues.
- The disease follows an autosomal recessive inheritance pattern.
Implications:
- This case report contributes to the limited documentation of lipoid proteinosis in India.
- Increased awareness and reporting are crucial for understanding the prevalence and clinical spectrum of this rare disease in diverse populations.
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