Lipoid Proteinosis in a Young Female: A Case Report

Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterized by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs. It is characterized by papular and nodular lesions on the face, elbows, knees and hands. The tongue is firm and hoarseness may be present at birth. We aim to describe one case of this disease in a 22 years old female who presented to the OPD for CT-scan of the brain post head injury. The essence of this case lies in its typical presentation with classic clinical features and also in the fact that this diagnosis was made incidentally in a patient presenting for a different complaint. A retrograde search leads to the identification of lesions of lipoid proteinosis in the patient. Since, very few such cases have been reported from our country we hope that this case report may lead to increased identification of this condition. R ad io lo g y S ec tio n Lipoid Proteinosis in a Young Female: A Case Report VeeRaputhiRan SenthilVelmuRugan, aRumugam pRemalatha, geRaRd Vinodh CASe RepoRT A 22-year-old female was referred to us for CT imaging of brain for a history of head injury. She was born of a consanguineous marriage and developed husky voice with skin and mucous membrane lesions at a young age. CT brain showed bilateral intracranial bean shaped calcification within the amygdala and hippocampal region of the temporal lobes [Table/Fig-1]. She had hoarseness of voice since 18 months of age. She also had multiple vesicular and pustular lesions in the skin which on resolution formed permanent scars with hyperkeratosis at the site of trauma [Table/Fig-2]. A thickened row of yellowish papular lesions was seen along the eyelid margins with loss of eyelashes [Table/Fig-3]. Her hair was sparse with scarring