Neurofibromatosis: Clinical Observations Through Four Pediatric Cases

Abstract

This study reviews the dermatological, neurological, and skeletal manifestations of Neurofibromatosis—also known as Von Recklinghausen's disease—based on four pediatric cases. All patients exhibited diagnostic Café-au-lait spots and freckling in axillary/groin regions. Two cases presented with pedunculated neurofibromas, and one with a subcutaneous plexiform lesion. Significant bone abnormalities were observed in two cases (scoliosis, tibial curvature, cystic humerus findings). IQ levels ranged from normal to mild intellectual delay. Three cases lacked familial history while one had a positive genetic background. These findings highlight the role of dermatologic and radiologic evaluation in early diagnosis and management of Neurofibromatosis.

Keywords

• çocuk
• nörofibromatozis
• klinik

Neurofibromatosis: Dört Çocuk Vakası Üzerinden Klinik Gözlemler

Abstract

Bu çalışma, Von Recklinghausen hastalığı olarak da bilinen Neurofibromatosis'in dermatolojik, nörolojik ve iskelet sistemine etkilerini dört çocuk vakası üzerinden değerlendirmektedir. Tüm olgularda tanı koydurucu olan Café-au-lait lekeleri ve aksiller/inguinal bölge çillenmeleri mevcuttur. İki vakada pediküllü neurofibromalar, bir vakada subkütan plexiform tümör gözlenmiştir. İki vakada belirgin kemik deformiteleri (skolyoz, tibial eğrilik, humerus kist görünümü) saptanmıştır. Zeka düzeyleri normalden hafif geriliğe değişkenlik göstermektedir. Vakaların üçünde aile öyküsü bulunmazken birinde pozitif genetik yatkınlık vardır. Bulgular, hastalığın erken dönem saptanmasında dermatolojik ve radyolojik incelemelerin önemini ortaya koymaktadır.

Keywords

• çocuk
• nörofibromatozis
• klinik

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