Catalog

Infantile systemic hyalinosis

No MMS code

Link to WHO Definition

Infantile systemic hyalinosis – http://id.who.int/icd/entity/2089325724

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.