Neurofibromatosis

Station Instructions: Assess this patient presenting with multiple skin lesions.

1. Key History‑Taking Points

Skin Lesions:

• When first noticed? Increasing in number or size?

• Any pain, itching, or disfigurement?

• Any nodules under the skin (neurofibromas)?

• Café-au-lait macules: number, distribution, onset (>6 in Neurofibromatosis)

• Axillary or inguinal freckling

Neurological Symptoms:

• Headache, visual changes (optic glioma)

• Hearing loss, tinnitus, balance disturbance (vestibular schwannoma in NF2)

• Seizures, weakness, paraesthesia, neuropathic pain

• Learning difficulties or attention problems (common in NF1)

Musculoskeletal:

• Scoliosis, bone deformities (bowed tibia, pseudoarthrosis)

• Fracture history

Ophthalmic:

• Vision loss, double vision, proptosis, eye pain

• Lisch nodules or optic glioma symptoms

Family History:

• Any relatives diagnosed with NF1/NF2 or unexplained skin lesions, deafness, or early blindness

• Mode of inheritance (autosomal dominant)

Functional Impact:

• Cosmetic concerns, psychological distress, functional disability

2. Key Examination Findings

• General Appearance:

  • Multiple café-au-lait macules (>6, >5 mm in prepubertal or >15 mm in adults)

  • Axillary or inguinal freckling (Crowe sign)

  • Cutaneous neurofibromas: soft, pedunculated lesions

  • Plexiform neurofibromas: large, nodular, may cause disfigurement

  Ophtalmological:

  • Lisch nodules (iris hamartomas) — slit lamp exam

  • Proptosis or visual loss (optic glioma)

  Neurological:

  • Cranial nerve deficits (esp. CN VIII in NF2)

  • Peripheral neuropathy

  • Weakness, spasticity, gait disturbance

  Musculoskeletal:

  • Scoliosis

  • Limb asymmetry

  • Pseudoarthrosis or tibial bowing

3. Specific Investigations

Laboratory & Genetic Testing:

• Clinical diagnosis based on NIH criteria

• Genetic testing for NF1 or NF2 mutations (if uncertain or for family counselling)

Imaging:

• MRI Brain & Spine: to detect optic glioma, vestibular schwannomas, meningiomas, or spinal tumours

• MRI Orbit: if visual symptoms present

• Skeletal X-ray/MRI: for bone dysplasia, pseudoarthrosis, scoliosis

Ophthalmology:

• Slit-lamp examination for Lisch nodules

• Visual field testing

Hearing Tests:

• Hearing tests and brainstem auditory evoked responses (especially in NF2)

Cognitive Assessment:

• Neuropsychology review for learning or attention disorders

4. Management

• Multidisciplinary Approach:

  • Neurology, Dermatology, Genetics, Ophthalmology, ENT, Orthopaedics, Psychology

  Symptomatic & Surveillance Management:

  • Cutaneous neurofibromas: surgical excision if disfiguring or painful

  • Plexiform neurofibromas: monitor for malignancy (pain, rapid growth, neurological deficit → MRI + biopsy)

  • Optic glioma: observation vs. chemotherapy if progressive

  • Hearing loss (NF2): hearing aids, cochlear or auditory brainstem implants

  • Orthopaedic: correction of scoliosis or bone deformities

  • Psychological support for appearance and learning issues

  Surveillance:

  • Annual skin, neurological and ophthalmic review

  • MRI brain/spine every 1–2 years (esp. in NF2)

  • Blood pressure monitoring (pheochromocytoma risk)

  • Family screening and genetic counselling

  Novel Therapies:

  • MEK inhibitors (Selumetinib) for symptomatic, inoperable plexiform neurofibromas (NF1)

 Neurofibroma Cheat Sheet