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
Diagnostic Performance of the Modern Imaging Modalities in Renovascular Disease: An Evaluation
ABSTRACT Introduction: Renal artery stenosis is a very important cause of Renovascular disease. Atherosclerosis has been identified as a most common etiology for renal artery stenosis. Long standing renal artery stenosis...
Role of MRI in the Evaluation of Painful Knee Joint
Introduction: Disease processes and injuries that disrupt ligaments, menisci, articular cartilage and other structures of the knee cause painful knee resulting in significant morbidity and disability. Aim: To identify co...
Characterisation of Focal Liver Lesions using Diffusion-Weighted Magnetic Resonance Imaging Technique
ABSTRACT Introduction: Magnetic Resonance Imaging (MRI) is an important imaging modality for assessing and charactersing Focal Liver Lesions (FLLs). Diffusion-Weighted (DW) imaging, a powerful imaging tool, adds valuable...
Role of Ultrasonography in Evaluation of Pathologies of Posterior Segment of the Orbit
Introduction: B-mode ultrasonography provides a good anatomical background and helps to rule out various pathologic conditions that affect the posterior segment of the eye. It can guide the ophthalmologist in diagnosing...
Penile Incarceration with Two Rings: An Unusual Case Report
Intentional use of constricting devices on penis to increase sexual performance and orgasm can lead to penile incarceration and severe consequences. Here, we report a case of 45-year-old men who presented to our Emergenc...