AI Article Synopsis

  • An 8-year-old girl had white bumps on her eyelids caused by lipoid proteinosis, a rare skin condition.
  • Microwave therapy was used and led to a significant decrease in these eyelid lesions.
  • The case also identified two new genetic variants in the ECM1 gene, which is linked to this condition.

Article Abstract

An 8-year-old girl presented with white papules on the eyelid margins due to lipoid proteinosis. Microwave therapy resulted in significant reduction of the lesions. The case highlights a safe and effective treatment for eyelid lesions associated with lipoid proteinosis. In addition, we report two novel heterozygous variants in the extracellular matrix protein 1 (ECM1) gene.

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Source
http://dx.doi.org/10.1111/pde.15685DOI Listing

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Lipoid proteinosis is a rare genetic disorder affecting the skin, mucous membranes, and central nervous system. Here, we present the case of a 35-year-old female who presented with two episodes of seizures followed by loss of consciousness and injury to the nose. A CT scan and MRI of the brain revealed small symmetrical calcifications in the bilateral medial temporal lobes, a finding highly suggestive of lipoid proteinosis.

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Article Synopsis
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