Lipoid Proteinosis: A Rare Cause of Hoarseness.

J Voice

Department of Otorhinolaryngology-Head and Neck Surgery, Ziekenhuis Oost-Limburg, Genk, Belgium. Electronic address:

Published: March 2019

Lipoid proteinosis is a rare cause of voice problems. Hoarseness is often the first clinical manifestation of this disorder and can present years before any other symptom. Therefore, it is very important as an otorhinolaryngologist to be familiar with the main characteristics of this disease. We present a case report and a review of current literature to provide a concise overview of this frequently missed diagnosis.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvoice.2017.05.024DOI Listing

Publication Analysis

Top Keywords

lipoid proteinosis
8
proteinosis rare
8
rare hoarseness
4
hoarseness lipoid
4
rare voice
4
voice problems
4
problems hoarseness
4
hoarseness clinical
4
clinical manifestation
4
manifestation 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!