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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http://dx.doi.org/10.1111/pde.15685 | DOI Listing |
Cureus
November 2024
Paediatrics, S Nijalingappa Medical College and Hanagal Shree Kumareshwar (HSK) Hospital and Research Centre, Bagalkot, IND.
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.
View Article and Find Full Text PDFIndian J Psychol Med
September 2024
Dept. of Psychiatry, GCS Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India.
Cureus
September 2024
Radiology, Lebanese American University School of Medicine, Beirut, LBN.
Indian Dermatol Online J
May 2024
Department of Radiology, Institute of Liver and Biliary Sciences, New Delhi, India.
Arq Neuropsiquiatr
November 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurorradiologia, São Paulo SP, Brazil.
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