AI Article Synopsis
- Lipoid proteinosis (LP) is a rare genetic disorder that typically starts in newborns, causing early symptoms like hoarseness.
- Skin and mucous membrane issues generally develop between ages 1 and 2, with one case reporting blistering and scarring in a 14-year-old who had symptoms since age 1.
- A skin biopsy revealed abnormal deposits in the skin, and currently, there is no known treatment for LP.
Article Abstract
Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14-year-old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1346-8138.2006.00049.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Relevance of superoxide dismutase type 1 to lipoid pneumonia: the first retrospective case-control study.
Respir Res
January 2025
National Center for Respiratory Medicine, State Key Laboratory of Respiratory Health and Multimorbidity, National Clinical Research Center for Respiratory Diseases, Institute of Respiratory Medicine, Chinese Academy of Medical Sciences, Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital, Beijing, P. R. China.
Background: Lipoid pneumonia (LP) is a rare disease caused by the accumulation of lipids and lipid-laden macrophages in the alveoli inducing damage. LP is difficult to differentiate from other similar diseases without pathological evidence, such as upper respiratory tract infection (URTI), pneumonia, cryptogenic organizing pneumonia (COP), pulmonary alveolar proteinosis (PAP), lung mucinous adenocarcinoma and pulmonary edema. Given the high misdiagnosis rate and limited statistical clinical and treatment data, there is an urgent need for novel indicators of LP.
View Article and Find Full Text PDFA 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.
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!