Infantile systemic hyalinosis
Infantile Systemic Hyalinosis (pronounced: in-fan-tile sis-tem-ic hya-li-no-sis) is a rare genetic disorder characterized by the accumulation of a clear, glassy substance in various tissues of the body.
Etymology
The term "Infantile Systemic Hyalinosis" is derived from the following roots: "Infantile" (from Latin infantilis, meaning "pertaining to an infant"), "Systemic" (from Greek systema, meaning "whole body"), and "Hyalinosis" (from Greek hyalinos, meaning "glassy" and -osis, meaning "condition").
Symptoms
The symptoms of Infantile Systemic Hyalinosis typically appear within the first few weeks of life and may include joint contractures, skin abnormalities, and growth retardation. Other symptoms may include painful swellings on the scalp and body, gastrointestinal problems, and respiratory difficulties.
Causes
Infantile Systemic Hyalinosis is caused by mutations in the ANTXR2 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of connective tissue.
Diagnosis
Diagnosis of Infantile Systemic Hyalinosis is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include genetic testing, which can detect mutations in the ANTXR2 gene.
Treatment
There is currently no cure for Infantile Systemic Hyalinosis. Treatment is symptomatic and supportive, and may include physical therapy to improve joint mobility, pain management, and treatment of gastrointestinal and respiratory problems.
Prognosis
The prognosis for individuals with Infantile Systemic Hyalinosis is generally poor, with most affected individuals not surviving past early childhood. However, the severity of the condition can vary, and some individuals may live into adolescence or early adulthood.
See Also
External links
- Medical encyclopedia article on Infantile systemic hyalinosis
- Wikipedia's article - Infantile systemic hyalinosis
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