Orphanet: Juvenile hyaline fibromatosis
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Juvenile hyaline fibromatosis

Disease definition

A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring 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.

ORPHA:2028

Classification level: Subtype of disorder
  • Synonym(s):
    • Murray-Puretic-Drescher syndrome
    • Puretic syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: M72.8  Q82.8
  • OMIM: 228600
  • UMLS: C0406578
  • MeSH: D057770
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Nederlands (2014) Italiano (2014) Greek (2011, pdf) Polski (2014, pdf)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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