Mafucci Syndrome (माफ़ुची सिंड्रोम) एक rare congenital disorder है जिसमें multiple enchondromas (cartilage tumors) और hemangiomas (blood vessel tumors) पाए जाते हैं।
- यह connective tissue disorder है।
- Usually childhood या adolescence में पहचाना जाता है।
- Patients में skeletal deformities, limb length discrepancy और soft tissue vascular malformations देखे जाते हैं।
- Malignant transformation (chondrosarcoma) का risk भी होता है।
Mafucci Syndrome क्या है (What is Mafucci Syndrome)
- Multiple enchondromas – benign cartilage tumors in bones
- Soft tissue hemangiomas – venous malformations under skin
- Asymmetrical limb deformities
- Growth abnormalities और skeletal complications common हैं
Mafucci Syndrome कारण (Causes of Mafucci Syndrome)
1. Genetic Mutation
- Somatic mutations in IDH1 or IDH2 genes
- Sporadic (mostly non-inherited)
- Mosaic pattern of mutation
2. Developmental Abnormality
- Abnormal cartilage and vascular development during embryogenesis
3. Unknown / Idiopathic
- Exact trigger not well known
Mafucci Syndrome लक्षण (Symptoms of Mafucci Syndrome)
- Multiple enchondromas – typically in hands, feet, long bones
- Soft tissue hemangiomas – purple/blue nodules under skin
- Limb asymmetry or shortening
- Skeletal deformities (bowing of bones, fractures)
- Pain or swelling in affected areas
- Rarely, malignant transformation to chondrosarcoma
Symptoms often noticed in childhood and progressively increase
Mafucci Syndrome कैसे पहचाने (Diagnosis of Mafucci Syndrome)
- Physical Examination – palpable nodules, limb deformities, hemangiomas
- X-ray / MRI / CT Scan – detect enchondromas and skeletal deformities
- Ultrasound / Doppler – for hemangiomas
- Genetic Testing – IDH1/IDH2 mutation confirmation (optional)
- Histopathology – biopsy if malignancy suspected
Early diagnosis helps monitor malignant transformation risk।
Mafucci Syndrome इलाज (Treatment of Mafucci Syndrome)
1. Surgical Management
- Removal of painful or symptomatic enchondromas
- Corrective surgery for skeletal deformities
- Excision of hemangiomas causing discomfort
2. Monitoring for Malignancy
- Regular imaging to detect chondrosarcoma or vascular sarcoma
- Biopsy if rapid growth or pain occurs
3. Symptomatic & Supportive Care
- Pain management
- Physical therapy for limb function
- Orthopedic support (splints, braces)
4. Experimental / Genetic Therapy
- Research ongoing for targeted therapy against IDH mutations
Complete cure is not possible; management focuses on symptom relief and malignancy prevention।
रोकथाम (Prevention)
- Genetic counseling in families with rare occurrence
- Early detection and monitoring
- Avoid trauma to affected bones and tissues
- Regular follow-up with orthopedic and dermatology specialists
सावधानियाँ (Precautions)
- Do not ignore rapidly growing lesions, pain, or swelling
- Avoid repetitive stress on affected limbs
- Adhere to regular imaging and check-ups
- Immediate consultation if malignant transformation suspected
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. Mafucci Syndrome inherited है?
Most cases sporadic होते हैं; familial inheritance rare है।
Q2. क्या यह cancer में बदल सकता है?
हाँ, enchondromas में rare cases में chondrosarcoma और hemangiomas में vascular sarcoma हो सकता है।
Q3. कितने सालों में symptoms दिखाई देते हैं?
Usually childhood या adolescence में detectable होते हैं।
Q4. Complete cure possible है?
नहीं, management symptoms relief और monitoring तक सीमित है।
निष्कर्ष (Conclusion)
Mafucci Syndrome (माफ़ुची सिंड्रोम) एक rare connective tissue disorder है जिसमें multiple enchondromas और hemangiomas पाए जाते हैं।
Early diagnosis, regular monitoring, surgical management और symptom care से complications और malignant transformation का जोखिम कम किया जा सकता है।
अगर किसी को multiple bone tumors, skin hemangiomas या skeletal deformities दिखाई दें, तो तुरंत orthopedic और dermatology specialists से consultation जरूरी है।