Lipoid proteinosis: pathognomonic clinical and radiological features.
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.
Department of Radiology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, Maharashtra, India.
Rahul Ganapati
RG
Hegde
Vikas K
VK
Yadav
Vikas J
VJ
Yadav
Meenakshi I
MI
Gajbhiye
D001921:Brain / Q000000981:diagnostic imaging; D002610:Cheek / Q000473:pathology; D005260:Female; D005546:Forehead / Q000473:pathology; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis* / Q000473:pathology; D059906:Neuroimaging; D011859:Radiography; D012867:Skin / Q000473:pathology; D055815:Young Adult