AI Article Synopsis
- Lipid proteinosis, or Urbach-Wiethe disease, is a rare genetic disorder that affects individuals in early childhood, leading to symptoms like hoarseness, skin changes, and eyelid papules.
- Common oral symptoms include a woody tongue and mucosal papules.
- Only around 250 cases have been documented globally, making it uncommon in many regions.
Article Abstract
Lipid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder. It presents in early childhood with hoarseness of voice, skin infiltration and thickening, beaded papules on the eyelid margin, and facial acneform scars. Oral findings such as woody tongue and papules on the oral mucosa are common findings. To the authors' knowledge, only about 250 cases have been reported to date. The occurrence of this disease in this part of the world is rare.
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Article Synopsis
- Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare genetic disorder that causes abnormal material buildup in various tissues, including skin and organs, and can sometimes lead to neurological issues.
- A case of a 25-year-old male presented with unexpected left leg weakness, which diverged from the typical symptoms of LP like skin and voice changes, highlighting the need to explore LP's possible neurological effects.
- Imaging revealed brain abnormalities and possible complications involving the liver and thyroid, indicating that LP might be linked to motor weakness and suggesting a need for more research into its neurological manifestations.
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