Juvenile Hyaline Fibromatosis
Synonyms: JHF, Juvenile fibromatosis, Hyaline fibromatosis syndrome, Murray-Puretic-Drescher syndrome
Rare genetic Fibrous disorder
Quick Facts
Behaviour
Benign
Category
Soft tissue
Synonyms
- JHF
- Juvenile fibromatosis
- Hyaline fibromatosis syndrome
- Murray-Puretic-Drescher syndrome
Category
Soft tissue
Behaviour
Benign
Gender
M = F
Tissue of Origin
Fibrous
Epidemiology
- Extremly rare inherited fibrous disease
- Presents in infancy or early childhood
- Autosomal recessive inheritance
Clinical Features
- Multiple nodular skin lesions on head and neck
- Progressive growth and coalescence
- Perforating papules of ears
- Gingival hypertrophy with tooth involvement
- Joint contractures
- Corneal involvement causing visual impairment
- GI involvement possible
Location
- Head and neck (prominent)
- Ears (characteristic perforating lesions)
- Gingiva (early involvement)
- Joints (contractures)
- Eyelids and conjunctiva
- Systemic involvement possible
Imaging
- Radiographs show lytic Bone lesions
- MRI demonstrates Fibrous infiltration
- Characteristic appearance helps distinguish from other conditions
Pathology
- Mature fibroblasts in hyaline collagen
- Eosinophilic hyaline material between cells
- No cellular atypia
- Non-encapsulated infiltrative lesions
Genetics
- CMG2 gene mutations (chromosome 4)
- Autosomal recessive inheritance
- Encodes anti-angiogenic protein
- Multiple pathogenic variants described
Treatment
- Surgical excision of lesions (limited efficacy, often recur)
- Medical therapy with acetaminophen showed promise in early reports
- Management of complications (visual, dental, contractures)
- Gene therapy under investigation
Prognosis
- Variable course with progressive disease typical
- No Malignant transformation
- Morbidity from complications and disfigurement
- Life expectancy Variable, complications can be severe
Key Points
- Rare genetic Fibrous disorder
- Autosomal recessive CMG2 mutations
- Multiple progressive lesions from infancy
- Management focuses on complications
- No curative treatment currently available
Workup - Local Imaging
- MRI for extent of disease
- Radiographs for Bone involvement
- Ophthalmologic assessment for corneal involvement
Follow-up Summary
- 1
Regular clinical assessment for disease progression
- 2
Specialist assessment (ophthalmology, dentistry, orthopedics)
- 3
Monitoring for systemic complications
- 4
Genetic counseling for family
Medical disclaimer
The content on Sarcopedia is for educational and informational purposes only and does not constitute medical advice. It is not intended to be a substitute for professional medical diagnosis or treatment. Always consult with a qualified physician regarding any health concerns or before starting any new treatment. Reliance on any information provided on this site is solely at your own risk.