Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4247989 | Radiology Case Reports | 2015 | 4 Pages |
Abstract
Lipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisystem involvement due to intracellular deposition of amorphous hyaline material. The disease is due to a mutation in the extracellular matrix of the protein 1 gene. The skin, mucosa, and central nervous system are commonly affected. Hallmark findings in the brain are calcifications, mostly occurring in the amygdala, hippocampus, parahippocampal gyrus, and striatum. Moniliform blepharosis, a dermatologic condition that is present in 50% of patients, is a pathognomonic finding. In the other 50% of patients, imaging assists in the diagnosis. We present a case of lipoid proteinosis with its characteristic features.
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Authors
Subhashree MD (RD) DNB (RD), Murali MD, Sundari MD, Kannadhasan MD, DMRD,