LIPOIDPROTEINOSIS Meaning and
Definition
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Lipoidproteinosis, also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare inherited disorder characterized by the accumulation of abnormal proteins and lipids in various tissues throughout the body.
Lipoidproteinosis primarily affects the skin, mucous membranes, and other organs. One of the key features of this condition is the accumulation of hyaline deposits, which are abnormal protein and lipid complexes, in the affected tissues. These deposits can lead to thickening and hardening of the skin and mucous membranes, causing various symptoms.
The clinical presentation of lipoidproteinosis can include a hoarse voice due to vocal cord involvement, thickened and beaded skin along the eyelids and around the mouth, as well as a characteristic yellowish appearance of the skin and mucous membranes. Other possible symptoms may include cognitive impairment, seizures, breathing difficulties, and dental abnormalities.
Lipoidproteinosis is typically inherited in an autosomal recessive manner, meaning that an affected individual has inherited two copies of the mutated gene, one from each parent. The genetic cause of this disorder has been linked to mutations in the ECM1 gene, which plays a role in the production and organization of the extracellular matrix.
Diagnosis is usually made based on the clinical signs and symptoms, along with histopathological examination of affected tissues and genetic testing to identify mutations in the ECM1 gene. Treatment focuses mainly on managing the symptoms and may involve the use of medications to alleviate skin thickening, voice therapy for hoarseness, and oral hygiene measures.
Common Misspellings for LIPOIDPROTEINOSIS
- kipoidproteinosis
- pipoidproteinosis
- oipoidproteinosis
- lupoidproteinosis
- ljpoidproteinosis
- lkpoidproteinosis
- lopoidproteinosis
- l9poidproteinosis
- l8poidproteinosis
- liooidproteinosis
- liloidproteinosis
- li-oidproteinosis
- li0oidproteinosis
- lipiidproteinosis
- lipkidproteinosis
- liplidproteinosis
- lippidproteinosis
- lip0idproteinosis
- lip9idproteinosis
- lipoudproteinosis
Etymology of LIPOIDPROTEINOSIS
The word "Lipoidproteinosis" is a combination of two terms: "lipoid" and "proteinosis".
1. Lipoid: The term "lipoid" comes from the Greek word "lipos", which means "fat". In medical terminology, "lipoid" refers to any substance resembling or related to fats or lipids. This component of the word Lipoidproteinosis suggests that fats or lipids play a role in the condition.
2. Proteinosis: The term "proteinosis" comes from the Greek word "proteios", which means "primary" or "first". In medical terms, "proteinosis" generally refers to the accumulation of proteins in an abnormal manner or location. This component of the word Lipoidproteinosis suggests an abnormal accumulation of proteins.
