Lipoid Proteinosis in a Young Female: A Case Report
Journal Title: International Journal of Anatomy Radiology and Surgery - Year 2017, Vol 6, Issue 1
Abstract
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.
Authors and Affiliations
Dr. Veeraputhiran Senthilvelmurugan, Arumugam Premalatha, Gerard Vinodh
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