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Infantile systemic hyalinosis

Disease 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.

ORPHA:2176

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy
  • ICD-10: E78.8
  • OMIM: 228600
  • UMLS: -
  • MeSH: -
  • GARD: 6807
  • MedDRA: -

Detailed information

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