Synonyms

• JHF
• Juvenile fibromatosis
• Hyaline fibromatosis syndrome

Category

Soft tissue

Behaviour

Benign

Gender

Both equally

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

• Regular clinical assessment for disease progression
• Specialist assessment (ophthalmology, dentistry, orthopedics)
• Monitoring for systemic complications
• Genetic counseling for family