Infantile systemic hyalinosis

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Infantile Systemic Hyalinosis

File:Infantile Systemic Hyalinosis.jpg
Illustration of Infantile Systemic Hyalinosis

Infantile Systemic Hyalinosis (ISH) is a rare, severe genetic disorder that primarily affects infants and young children. It is characterized by the accumulation of a clear substance known as hyalin in various tissues and organs of the body, leading to a range of health problems.

Symptoms and Signs[edit | edit source]

The symptoms of ISH typically appear within the first few weeks or months of life. These may include painful, swollen joints, skin abnormalities, and failure to thrive. Other symptoms can include recurrent infections, gastrointestinal problems, and facial abnormalities.

Causes[edit | edit source]

ISH is caused by mutations in the ANKH gene. This gene provides instructions for making a protein that is involved in the transport of a molecule called pyrophosphate. Mutations in the ANKH gene disrupt this process, leading to the accumulation of hyalin.

Diagnosis[edit | edit source]

Diagnosis of ISH is based on the clinical symptoms and confirmed by genetic testing. Imaging studies such as X-rays and MRI may also be used to detect the presence of hyalin in various tissues and organs.

Treatment[edit | edit source]

There is currently no cure for ISH. Treatment is supportive and aimed at managing the symptoms. This may include pain management, physical therapy, and treatment of infections.

Prognosis[edit | edit source]

The prognosis for individuals with ISH 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 adulthood.

See Also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD