Lipoid proteinosis: pathognomonic clinical and radiological features

Area of Science:

• Rare genetic disorders
• Dermatology
• Neurology

Background:

• Lipoid proteinosis is an autosomal recessive disorder characterized by hyaline-like material deposition in various tissues.
• It is caused by mutations in the ECM1 gene, affecting extracellular matrix production.

Observation:

• A 22-year-old woman presented with facial rash, hoarseness, and characteristic 'moniliform blepharosis' (beaded papules on eyelid margins).
• Physical examination revealed waxy thickening and scarring on the forehead and cheeks.

Findings:

• Cerebral computed tomography (CT) scan demonstrated bilateral, symmetric calcification of the amygdala within the hippocampal nuclei.
• These clinical and radiological findings confirmed the diagnosis of lipoid proteinosis.

Implications:

• This case highlights the importance of recognizing the diverse clinical manifestations of lipoid proteinosis.
• Cerebral calcifications, particularly in the amygdala, may be a significant neurological feature of this rare genetic disorder.
• Early diagnosis and multidisciplinary management are crucial for patients with lipoid proteinosis.