Infantile systemic hyalinosis

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Infantile systemic hyalinosis

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures skin abnormalities severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin skeletal muscle cardiac muscle gastrointestinal tract lymph nodes spleen thyroid and adrenal glands.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Infantile systemic hyalinosis?

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