Mucosal Neuroma Syndrome (MNS / म्यूकोसल न्यूरोमा सिंड्रोम) एक rare genetic disorder है जिसमें mucosal tissues (मुख और मुंह की अंदरूनी सतह) पर benign nerve tumors बनते हैं।
- यह condition अक्सर Multiple Endocrine Neoplasia type 2B (MEN 2B / एंडोक्राइन नेप्लेसिया टाइप 2B) से जुड़ी होती है।
- Syndromic form में endocrine tumors (thyroid medullary carcinoma, pheochromocytoma) भी शामिल हो सकते हैं।
- यह autosomal dominant inheritance वाला disorder है।
Mucosal Neuroma Syndrome क्या है (What is Mucosal Neuroma Syndrome)
- Syndrome की मुख्य पहचान mucosal neuromas – harmless, soft, painless nodules on lips, tongue, and oral cavity
- Associated systemic features – marfanoid habitus, thyroid and adrenal tumors
- Rare but clinically significant क्योंकि early detection medullary thyroid carcinoma risk कम कर सकता है
Mucosal Neuroma Syndrome कारण (Causes of Mucosal Neuroma Syndrome)
- Genetic Mutation
- RET proto-oncogene mutation – chromosome 10
- Autosomal dominant inheritance
- Association with MEN 2B
- Pheochromocytoma (adrenal gland tumor)
- Medullary thyroid carcinoma
- Spontaneous Mutation
- Some cases – de novo mutation without family history
Genetic counseling recommended for affected individuals and families।
Mucosal Neuroma Syndrome लक्षण (Symptoms of Mucosal Neuroma Syndrome)
Oral & Mucosal Symptoms:
- Multiple painless nodules on tongue, lips, and oral mucosa
- Soft, movable, non-tender growths
- Glossal or labial enlargement
Systemic Symptoms (MEN 2B features):
- Medullary thyroid carcinoma – neck mass, hoarseness
- Pheochromocytoma – hypertension, palpitations, sweating
- Marfanoid habitus – tall, thin body with long limbs
- Gastrointestinal neuromas – constipation or diarrhea
Early recognition crucial for preventing endocrine malignancies।
Mucosal Neuroma Syndrome कैसे पहचाने (Diagnosis of Mucosal Neuroma Syndrome)
- Clinical Examination – oral neuromas, marfanoid features
- Histopathology / Biopsy – confirms neuroma (benign nerve tumor)
- Genetic Testing – RET proto-oncogene mutation confirmation
- Endocrine Evaluation – thyroid and adrenal screening
- Imaging Studies – neck ultrasound, CT/MRI for tumors
Early diagnosis allows preventive thyroidectomy and management of pheochromocytoma।
Mucosal Neuroma Syndrome इलाज (Treatment of Mucosal Neuroma Syndrome)
1. Surgical Management
- Thyroidectomy – prophylactic in RET mutation carriers
- Adrenalectomy – pheochromocytoma cases
- Oral neuromas – cosmetic or functional surgery if required
2. Medical Management
- Hypertension control in pheochromocytoma
- Follow-up for endocrine tumors
3. Supportive Care
- Speech therapy – if oral neuromas affect speaking
- Regular genetic counseling for family
Main goal – prevent malignant transformation and manage endocrine complications।
रोकथाम (Prevention)
- Genetic counseling for families with MEN 2B
- Early RET mutation screening in children
- Regular monitoring for thyroid and adrenal tumors
सावधानियाँ (Precautions)
- Oral lesions ignore न करें
- Early thyroidectomy – medullary thyroid carcinoma prevention
- Blood pressure monitoring – pheochromocytoma risk
- Lifelong follow-up required
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. क्या Mucosal Neuroma Syndrome hereditary है?
हाँ, यह autosomal dominant inheritance वाला disorder है।
Q2. Oral neuromas cancerous होते हैं?
नहीं, mucosal neuromas benign होते हैं, लेकिन associated endocrine tumors malignant हो सकते हैं।
Q3. क्या RET mutation का टेस्ट जरूरी है?
हाँ, early detection से prophylactic thyroidectomy और pheochromocytoma screening possible है।
Q4. यह बचपन में ही दिखाई देता है?
Oral neuromas और marfanoid habitus अक्सर childhood या adolescence में दिखते हैं।
निष्कर्ष (Conclusion)
Mucosal Neuroma Syndrome (म्यूकोसल न्यूरोमा सिंड्रोम) एक rare genetic disorder है।
Early diagnosis, RET genetic testing, prophylactic thyroidectomy और pheochromocytoma management से life-threatening complications रोके जा सकते हैं।
यदि कोई oral nodules, marfanoid habitus या family history of MEN 2B दिखाई दे, तो geneticist और endocrinologist से तुरंत सलाह लें।