Lipoid proteinosis is a rare autosomal recessive dermatosis, which can be congenital or have onset in infancy. It is characterized by the progressive deposition of an amorphous hyaline substance with a glycoprotein constitution in the skin and mucous membranes and presents as papular lesions that can aggregate forming plaques with a yellowish discoloration. We present a case of lipoid proteinosis in a seven-year-old boy where characteristic calcifications in the medial temporal lobe helped in early initiation of treatment.
HamadaTMcLeanWHIRamsayM: Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Molec Gen11: 833–40, 2002.
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HurlemannRWagnerMHawellekB: Amygdala control of emotion-induced forgetting and remembering: Evidence from Urbach-Wiethe disease. Neuropsychologia45: 877–84, 2007.
