Infantile systemic hyalinosis (Q98288): Difference between revisions

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Latest revision as of 14:41, 16 August 2026

Infantile systemic hyalinosis is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterised 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.

Language	Label	Description	Also known as
default for all languages	ID_2089325724
English	Infantile systemic hyalinosis	Infantile systemic hyalinosis is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterised 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.