Lipoid proteinosis is a rare congenital disorder that can present with a variety of symptoms. A nineteen year old Indian male with dysmorphic features was admitted with a twelve year history of recurrent ulcerations over the upper limbs and oral cavity. Although the initial presentation was strongly suggestive of a congenital immune-deficiency syndrome, all investigations for immunodeficiency disorders were negative. Subsequent evaluation yielded a diagnosis of lipoid proteinosis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562964 | PMC |
| http://dx.doi.org/10.4066/AMJ.2011.635 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Rare Case of Lipoid Proteinosis in a Patient Presenting With Seizures: A Case Report and Literature Review.
Cureus
November 2024
Paediatrics, S Nijalingappa Medical College and Hanagal Shree Kumareshwar (HSK) Hospital and Research Centre, Bagalkot, IND.
Lipoid proteinosis is a rare genetic disorder affecting the skin, mucous membranes, and central nervous system. Here, we present the case of a 35-year-old female who presented with two episodes of seizures followed by loss of consciousness and injury to the nose. A CT scan and MRI of the brain revealed small symmetrical calcifications in the bilateral medial temporal lobes, a finding highly suggestive of lipoid proteinosis.
View Article and Find Full Text PDFNeuropsychiatric Sequelae of Urbach- Wiethe Disease in Siblings: A Case Series.
Indian J Psychol Med
September 2024
Dept. of Psychiatry, GCS Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India.
Patient With Lipoid Proteinosis Presenting With Sudden-Onset Lower Limb Weakness: A Rare Case.
Cureus
September 2024
Radiology, Lebanese American University School of Medicine, Beirut, LBN.
Article Synopsis
- Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare genetic disorder that causes abnormal material buildup in various tissues, including skin and organs, and can sometimes lead to neurological issues.
- A case of a 25-year-old male presented with unexpected left leg weakness, which diverged from the typical symptoms of LP like skin and voice changes, highlighting the need to explore LP's possible neurological effects.
- Imaging revealed brain abnormalities and possible complications involving the liver and thyroid, indicating that LP might be linked to motor weakness and suggesting a need for more research into its neurological manifestations.
Lipoid Proteinosis: A Rare Case Report and Review of Literature.
Indian Dermatol Online J
May 2024
Department of Radiology, Institute of Liver and Biliary Sciences, New Delhi, India.
Intracranial hemorrhage in a patient with Urbach-Wiethe disease.
Arq Neuropsiquiatr
November 2024
Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurorradiologia, São Paulo SP, Brazil.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!