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[Lipoid proteinosis in 2 sisters]
G Oezarmağan1, C Baykal, E O Gürsoy
1Dermatologische Abteilung, Medizinischen Fakultät Istanbul.
Summary
Lipoid proteinosis, a rare genetic disorder, was diagnosed in siblings due to hyaline material accumulation. The study details its genetic, clinical, and ultrastructural findings, including unusual neurological manifestations.
Area of Science:
- Genetics
- Pathology
- Neurology
Background:
- Lipoid proteinosis is a rare autosomal recessive disorder.
- Characterized by hyaline deposition in various tissues.
- Often presents with characteristic skin and mucosal lesions.