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Juvenile hyaline fibromatosis

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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

ICD-11: EE6Y

OMIM: 228600

MeSH: D057770

A summary on this disease is available in Français (2014) Español (2014) Deutsch (2014) Italiano (2014) Nederlands (2014) Polski (2024) Polski (2014.pdf) Ελληνικά (2011.pdf)
Detailed information
Disease review articles
Clinical genetics review
English (2023) - GeneReviews

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

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.