Lipoid proteinosis: pathognomonic clinical and radiological features

Abstract

A 22-year-old woman presented with a facial rash and hoarseness of voice. On examination, coarse waxy thickening and scarring was noted on the forehead and both the cheeks. The eyelid margins revealed a row of beaded papules termed 'moniliform blepharosis'. CT scan of the brain revealed bilateral, symmetric calcification of the amygdala of the hippocampal nuclei. This led to the diagnosis of lipoid proteinosis which is a rare genetic disorder.

Lipoid proteinosis

“…24 Genetics LP is a rare and autosomal recessive inherited disease. 5 27 According to the The Human Gene Mutation Database (HGMD) 71 pathogenic mutations in ECM1 have been reported in LP patients from different geographical areas, including 32 missense/nonsense substitutions, 9 splicing substitutions, 26 small deletions/insertions (indels) and 4 gross deletions/insertions. 28 Hamada et al, suggested a genotype-phenotype correlation based on the location of the mutation, with a slightly milder phenotype for patients with mutations in exon 7 compared to patients with mutations outside exon 7.…”

“…11 Cutaneous manifestations usually arise during the first two years of life. 5 Neurpshychiatric symptoms of LP are more common in patients older than 10 years of age. 15 An et al…”

“…5) and plaques occur on surfaces exposed to trauma such as elbows, knees and hands. 5,6,14 Papules, plaques, and nodules may be found primarily on the face, but also in the axilla and scrotum. Irregular or widespread alopecia may be seen due to the involvement of the scalp, but alopecia is not a finding in most cases.…”

“…while on the extensor surfaces, verrucous and keratotic lesions occur. 1,[4][5][6] The disease is typically slow progressing, but usually follows a benign course. Almost any organ can be affected.…”