Lipoid proteinosis: report of three familial cases.

Dermatol Online J

Tehran University of Medical sciences, Razi Hospital, Tehran, Iran.

Published: January 2006

Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.

Download full-text PDF

Source

Publication Analysis

Top Keywords

lipoid proteinosis
12
report three
8
three familial
8
familial cases
8
cases lipoid
8
proteinosis report
4
proteinosis rare
4
rare autosomal
4
autosomal recessive
4
recessive disorder
4

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 PDF

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 PDF
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.
View Article and Find Full Text PDF

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!