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Juvenile hyaline fibromatosis

ORPHA2028
Synonym(s) Murray-Puretic-Drescher syndrome
Puretic syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • M72.8
OMIM
UMLS
  • C0406578
MeSH
  • D057770
MedDRA -

Summary

Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions in variable degrees. Joint contractures may cripple the patients and delay normal motor development if it occurs in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).


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Detailed information

Summary information
Clinical genetics review
  • EN (2013)
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