Neurofibromatosis Type 1 or von Recklinghausen disease; Key Clinical Features, Diagnosis Criteria скачать в хорошем качестве

Neurofibromatosis Type 1 or von Recklinghausen disease; Key Clinical Features, Diagnosis Criteria

Neurofibromatosis Type 1 (NF1), also known as von Recklinghausen disease, is a common autosomal dominant genetic disorder that affects approximately 1 in 3,000 individuals worldwide. It primarily involves the skin, nervous system, and eyes, and is caused by mutations in the NF1 gene on chromosome 17q11.2, which encodes neurofibromin, a tumor suppressor protein that regulates cell growth via the RAS/MAPK pathway. 🧬 Pathogenesis Loss of neurofibromin function leads to unchecked RAS signaling, promoting cell proliferation and tumor formation. The disease shows variable expressivity, meaning symptoms can range from mild to severe—even among family members with the same mutation. 🧠 Clinical Features Skin Manifestations Café-au-lait spots: ≥6 light brown macules, often present at birth or early childhood. Axillary or inguinal freckling: Appears by age 5. Cutaneous neurofibromas: Soft, benign nerve sheath tumors on or under the skin. Plexiform neurofibromas: Larger, deeper tumors that can cause disfigurement or compress adjacent structures. Ocular Findings Lisch nodules: Pigmented hamartomas of the iris, visible on slit-lamp exam. Optic pathway gliomas: Low-grade tumors affecting vision, especially in children. Skeletal Abnormalities Scoliosis, pseudoarthrosis, and long bone dysplasia. Sphenoid wing dysplasia may be seen on imaging. Neurological and Cognitive Issues Learning disabilities, ADHD, and speech delays are common. Increased risk of epilepsy and brain tumors. 🧪 Diagnostic Criteria (NIH Consensus) Diagnosis requires two or more of the following: ≥6 café-au-lait spots ≥2 neurofibromas or 1 plexiform neurofibroma Axillary or inguinal freckling Optic glioma ≥2 Lisch nodules Distinctive osseous lesion First-degree relative with NF1 🩺 Management Multidisciplinary care: Dermatology, neurology, ophthalmology, orthopedics, and genetics. Surveillance: Regular monitoring for tumor growth, vision changes, and learning difficulties. Surgical intervention: For symptomatic or disfiguring neurofibromas. Targeted therapy: MEK inhibitors (e.g., selumetinib) for inoperable plexiform neurofibromas. #Neurofibromatosis