A new case of Urbach Wiethe disease is reported. The diagnosis of this disorder, despite the existence of typical histological connective tissue deposits, was recognized late. The authors review the morphological characteristics of the disease, emphasizing that atypical clinical presentations may occur which underline the importance of the histological examination.
Download full-text PDF |
Source |
|---|
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.
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.
Advances in treatment for lipoid proteinosis (Urbach-Wiethe disease): a case report and systematic review.
Clin Exp Dermatol
May 2024
Departments of Dermatology.
Article Synopsis
- Lipoid proteinosis (LP) is a rare genetic skin disorder caused by ECM1 gene mutations, leading to abnormal material accumulation in skin and organs.
- The case report focuses on a 48-year-old man with LP who improved significantly after treatment with oral acitretin, while a systematic review was conducted to gather and evaluate related studies on LP management.
- The review included 25 studies and analyzed data from 44 patients, suggesting that low-dose acitretin may be a promising treatment option with fewer side effects, but highlights the need for further research to develop better treatment guidelines.
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!