Infantile systemic hyalinosis (ISH) is a rare, inherited disorder that affects the skin, joints, and internal organs. It is characterized by the accumulation of hyaline material in the tissues of the body, which can cause a variety of symptoms, including skin rash, joint stiffness, and organ dysfunction. ISH is caused by mutations in the ALG2 gene, which is responsible for the production of an enzyme called alginate lyase. Without this enzyme, the body is unable to break down a type of sugar molecule called alginate, leading to its accumulation in the body. Treatment for ISH is supportive and may include physical therapy, medications, and dietary modifications.

The symptoms of Infantile systemic hyalinosis vary from person to person, but may include:

-Skin rash
-Joint pain
-Fever
-Fatigue
-Weight loss
-Abdominal pain
-Diarrhea
-Vomiting
-Liver and spleen enlargement
-Anemia
-Growth retardation
-Developmental delay
-Respiratory problems
-Cardiac abnormalities
-Kidney problems
-Eye problems
-Hearing loss

The exact cause of infantile systemic hyalinosis is unknown. However, it is believed to be an inherited disorder caused by a mutation in the ANTX2 gene. This gene is responsible for producing a protein called hyaluronidase, which helps break down hyaluronic acid in the body. Mutations in this gene can lead to an accumulation of hyaluronic acid in the body, resulting in the symptoms of infantile systemic hyalinosis.

The main treatment for infantile systemic hyalinosis is supportive care. This includes providing adequate nutrition, hydration, and oxygenation. Other treatments may include medications to reduce inflammation, physical therapy to help with mobility, and surgery to correct any deformities or blockages. In some cases, a bone marrow transplant may be recommended.

The exact cause of infantile systemic hyalinosis is unknown, but there are several risk factors that may increase the likelihood of developing the condition. These include:

• Being born prematurely
• Being of African or Asian descent
• Having a family history of the condition
• Having certain genetic mutations, such as those in the FKRP gene
• Having certain medical conditions, such as diabetes or kidney disease
• Being exposed to certain medications, such as anticonvulsants or antibiotics

At this time, there is no known cure for Infantile systemic hyalinosis. However, there are medications that can help manage the symptoms. These include corticosteroids, immunosuppressants, and other medications that can help reduce inflammation and improve organ function.