Infantile systemic hyalinosis

Orpha code: 2176OMIM code: 228600

Definition

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.

Disease data
Classification

Clinical subtype

ORPHA code
2176
OMIM code
228600
ICD10 code
E78.8
ICD11 code
EE6Y

No additional description.

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