Synonyms

Enchondromatosis with hemangiomas

Category

Syndrome

Gender

Both equally

Tissue of Origin

Cartilage

Epidemiology

• Rare disorder combining multiple enchondromas with soft tissue hemangiomas
• IDH1/2 mutations acquired (not inherited)
• Sporadic presentation
• Very High malignancy risk (50% lifetime: chondrosarcoma, other cancers)

Clinical Features

• Multiple enchondromas (like Ollier)
• Cutaneous and subcutaneous hemangiomas
• Limb swelling and deformity
• Cafe-au-lait spots sometimes present
• Pain if lesions enlarging

Location

• Long Bones: multiple enchondromas
• Soft tissues: Vascular malformations
• Often asymmetric distribution

Imaging

• Skeletal survey: enchondromas
• MRI: assess Bone and soft tissue lesions
• Vascular imaging (MRA/CTA) if hemangiomas large

Pathology

• Enchondromas histologically
• Vascular malformations in soft tissues
• Monitor for chondrosarcoma

Genetics

• IDH1/2 somatic mutations (acquired, not germline)
• Genetic testing may identify mutations
• Remains unclear if true heritable condition

Treatment

• Observation of stable lesions
• Surgical excision if symptomatic
• Enhanced surveillance for malignancy

Prognosis

• Very High malignancy risk (50% lifetime)
• Chondrosarcoma, ovarian cancer, pancreatic cancer, others
• Requires aggressive surveillance

Key Points

• SYSTEMIC GENETIC Syndrome
• Combination enchondromatosis + hemangiomas
• VERY High malignancy risk
• IDH1/2 mutations acquired

Workup - Blood Tests

No routine blood tests

Workup - Local Imaging

• Full-body skeletal survey: baseline
• MRI pelvis: screen for ovarian cancers (elevated risk)
• Annual imaging: monitor for transformation

Workup - Biopsy

If concern for chondrosarcoma

Workup - Staging

• Baseline full-body imaging
• Consider baseline pelvic MRI

Workup - Other

• Genetics consultation
• Aggressive cancer surveillance (ovarian, pancreatic, others)
• Patient education on very High malignancy risk

Follow-up Summary

• Very frequent surveillance: every 3-6 months imaging of lesions
• Annual full-body cancer screening (difficult)
• MRI pelvis for ovarian cancer screening
• Careful assessment for Malignant transformation: rapid growth, pain, imaging aggression