Multiple Cartilaginous Exostoses (MCE), जिसे Hereditary Multiple Exostoses (HME) भी कहा जाता है, एक rare genetic skeletal disorder है।
- इसमें bones की surface पर benign bony growths (osteochondromas) बन जाते हैं।
- ये growths cartilage-capped होते हैं और usually long bones, ribs, and pelvis पर पाए जाते हैं।
- यह disorder autosomal dominant inheritance द्वारा उत्पन्न होता है।
- Growths slowly progressive होते हैं और कभी-कभी pain, deformity या restricted movement कर सकते हैं।
Multiple Cartilaginous Exostoses क्या है (What is MCE)
- Multiple benign bony projections (osteochondromas) शरीर में अलग-अलग bones पर
- Commonly affect: femur, tibia, humerus, pelvis
- Cartilage cap होता है, जो growth plate से जुड़ा होता है
- Symptoms vary – asymptomatic to painful, deformity-causing
- Rarely, malignant transformation (chondrosarcoma) हो सकता है
Multiple Cartilaginous Exostoses कारण (Causes of Multiple Cartilaginous Exostoses)
1. Genetic Mutation
- EXT1, EXT2 genes में mutation
- Affects heparan sulfate synthesis, bone growth regulation
2. Autosomal Dominant Inheritance
- Parents से child को inherit हो सकता है
- Approximately 50% inheritance risk
3. Developmental Abnormality
- Disruption in endochondral ossification during bone growth
- Leads to abnormal cartilage-capped bony outgrowths
MCE primarily genetic disorder है, environmental triggers minor role play करते हैं।
Multiple Cartilaginous Exostoses लक्षण (Symptoms of Multiple Cartilaginous Exostoses)
- Multiple bony lumps around joints
- Pain or tenderness over growths
- Restricted joint movement
- Limb deformities (bowing of legs, shortening)
- Unequal limb length
- Nerve or blood vessel compression – numbness, tingling
- Rare: malignant transformation (rapid growth, pain)
Symptom severity depend करता है number, location और size of exostoses।
Multiple Cartilaginous Exostoses कैसे पहचाने (Diagnosis of Multiple Cartilaginous Exostoses)
- Clinical Examination – palpable bony lumps, limb deformities
- X-ray / Radiographs – clearly shows cartilage-capped bony projections
- MRI / CT Scan – evaluate cartilage cap thickness, nerve involvement
- Genetic Testing – confirm EXT1 or EXT2 mutation
- Differential Diagnosis – solitary osteochondroma, other bone tumors
Early diagnosis helps manage deformities and prevent complications।
Multiple Cartilaginous Exostoses इलाज (Treatment of Multiple Cartilaginous Exostoses)
1. Observation & Monitoring
- Asymptomatic growths – regular follow-up
- Monitor size, pain, or functional impairment
2. Surgical Management
- Indicated for:
- Painful or large growths
- Restricted joint movement
- Nerve or vascular compression
- Suspected malignant transformation
- Surgical excision – complete removal of osteochondroma
3. Physical Therapy
- Maintain joint mobility
- Strengthening exercises to support affected limbs
4. Supportive Measures
- Pain management – NSAIDs
- Protective padding for daily activity
- Genetic counseling for affected families
Goal: pain relief, functional improvement, deformity prevention।
रोकथाम (Prevention)
- Genetic disorder होने के कारण complete prevention possible नहीं
- Early diagnosis और surgical intervention से complications reduce
- Regular orthopedic follow-up to monitor growths
सावधानियाँ (Precautions)
- Monitor for sudden increase in growth size or pain – sign of malignancy
- Avoid trauma to bony protrusions
- Maintain regular orthopedic consultation
- Genetic counseling before family planning
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. क्या Multiple Cartilaginous Exostoses hereditary है?
हाँ, यह autosomal dominant genetic disorder है।
Q2. क्या यह cancerous हो सकता है?
Rarely, osteochondroma malignant (chondrosarcoma) में बदल सकता है।
Q3. बच्चों में growths कब दिखाई देते हैं?
Usually early childhood में, puberty तक progressive होते हैं।
Q4. क्या surgery हमेशा जरूरी है?
नहीं, asymptomatic या small growths में केवल monitoring पर्याप्त है।
निष्कर्ष (Conclusion)
Multiple Cartilaginous Exostoses (मल्टिपल कार्टिलेजिनस एक्सोस्टोसिस) एक rare genetic bone disorder है।
Early diagnosis, monitoring, surgical intervention (if needed), physiotherapy और genetic counseling से pain relief, deformity prevention और functional improvement संभव है।
यदि bony lumps, pain या limb deformity दिखाई दें, तो तुरंत orthopedic specialist से consultation करें।