Patient | Age (y) | Sex | Age of onset (y) | First symptom | Distribution of tumours | Findings associated with NF1 |
Tumour pathology (No of tumours) | Family history | ||||||||
BNF1 | 44 | F | 35 | Painless mass | Brachial plexus and chest (bilateral) | Single CAL, migraine | Neurofibroma and plexiform neurofibroma (2) | Brother, osteosarcoma | ||||||||
BNF2 | 36 | F | 18 | Abdominal pain | Scalp, spine and pelvis | Learning disability, migraine, single CAL | Neurofibroma (2) | Daughter, four subcutaneous masses | ||||||||
Mother, multiple NF without CAL | ||||||||||||||||
Maternal aunt and brother, multiple NF (not confirmed) | ||||||||||||||||
BNF3 | 39 | F | 6 | Painless mass | Head and neck, spine, extremities, torso | Leg length discrepancy | Neurofibroma and plexiform neurofibroma (5) | None | ||||||||
BNF4 | 44 | F | 16 | Facial palsy | Skull base, brachial plexus, spine, chest, pelvis, extremities | None | Neurofibroma (2) | None | ||||||||
BNF9 | 49 | F | 48 | Chest pain | Brachial plexus (bilateral) | Migraine | Neurofibroma (1) | None | ||||||||
BNF10 | 47 | M | 33 | Spastic gait | Spine | Skin tags | Neurofibroma (2) | Brother, multiple NF | ||||||||
BNF11 | 65 | M | 53 | Painless mass | Shoulder, chest, arm (all cutaneous) | Three CAL | Neurofibroma (7) | Son, NF2 | ||||||||
BNF12 | 62 | F | 20 | Painless mass | Face, extremities (all cutaneous) | Three CAL | Neurofibroma (2) | Multiple relatives with “tumours”, none confirmed | ||||||||
BNF14 | 48 | F | 18 | Facial pain | Head and neck (R greater then L) | Single GTC, hypertension | Neurofibroma (4) | None | ||||||||
BNF15 | 39 | F | 31 | Hip pain | R hip and buttock | None | Neurofibroma with marked collagen deposition (2) | None |
F = female, M = male, R = right, L = left, CAL = café au lait macules, GTC = generalised tonic clonic seizure, NF = neurofibromas.