Lipoid proteinosis coexisting with rare psychiatric manifestations: a case report with a review of literature

Abstract

Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of hyaline material in the skin and internal organs. Skin involvement is in the form of blisters in infancy healing with pock-like scars, yellow waxy papules, plaques, moniliform blepharosis and diffuse infiltration. Neurological manifestations such as epilepsy, schizophrenia and memory loss have also been reported. We report the case of a 24-year-old female with lipoid proteinosis with neuro-psychiatric symptoms. Her non-contrast computed tomography of the head showed symmetrical calcification involving bilateral medial temporal lobes. We also review the literature on previous publications of lipoid proteinosis cases with neuropsychiatric involvement.

Keywords

• lipoid proteinosis
• urbach-wiethe disease
• schizophrenia