Neuro: Neuorcutaneous Disorders

Playlist contributed by: Dr Annabelle Skelley

Neurofibromatosis 1 (Von Recklinghausen)

  • Autosomal dominant disorder 
  • Most common neurocutaneous disorder 
  • NF1 on chromosome 17q11.2 
  • Hamartomatous disorder involving ectoderm and mesoderm 
  • Inactivation of tumour suppressor gene -> increased risk of tumours (MPNST, Wilms, rhabdomyosarcoma, AML, glioma, carcinoid, ganglioglioma, leukaemia, pheochromocytoma)
  • CAFE SPOT
    • Cafe au last spots
    • Axillary/inguinal freckling 
    • Fibromas (neurofibroma or plexiform neurofibroma -> specific to NF1) 
    • Eye hamartomas (Lisch nodules) 
    • Skeletal abnormalities (sphenoid wing dysplasia, leg bowing)
    • Positive family history 
    • Optic Tumour (optic nerve glioma)

Neurofibromatosis 2

  • Rare, autosomal dominant
  • NO NEUROFIBROMAS
  • Rule of 2s
    • Neurofibromatosis type 2
    • Chromosome 22 (22q12) gene location
    • Bilateral vestibular schwannomas 
    • Presents in 2nd-4th decade (around 20 yrs) 
    • Prevalence: 1/25,000
  • MISME
    • Multiple
    • Inherited
    • Schwannomas
      • Mainly vestibular, but can be spinal
    • Meningiomas
      • Intracranial & spinal
    • Ependymomas
      • Intraspinal-intramedullary

Von Hippel-Lindau

  • Mutations in VHL tumour suppressor gene on chromosome 3 -> development of numerous malignant and benign tumour in various organs
  • 1:35-50,000
  • Majority diagnosed with first tumour at 26
  • HIPPEL
    • ​Haemangioblastoma
    • Increased risk of RCC
    • Phaechromocytoma 
    • Pancreatic lesions (cyst, cystadenoma, cystandenocarcinoma)
    • Eye dysfunction (retinal haemangioblastoma) & Endolymphatic sac tumours
    • Liver, renal and pancreatic cysts 

Tuberous Sclerosis (Bourneville Disease)

  • Multiple benign tumours of the embryonic ectoderm
  • 1:6,000-12,000
  • Spontaneous mutations (50-86%), remainder are autosomal dominant 
  • Vogt triad
    1. Seizures
    2. Mental retardation
    3. Adenoma sebaceous 
  • Radiographic features:
    • Cortical or subcortical tubers & WM abnormalities
    • Subependymal hamartomas (88% calcified)
    • Subependymal giant cell astrocytoma
    • Renal AML 
    • Cardiac rhabdomyomas 
    • LAM
    • Sclerotic bone lesions 

Gorlin-Goltz (Basal Cell Naevus)

  •  Multiple odonotogenic keratocysts, BCCs and other abnormalities
    • Frontal bossing, macrocephaly, calcified falx, cleft lip, bifid rib, short 4th metacarpals  
    • Medulloblastomas, calcified ovarian fibroma, fetal rhabdomyoma, cardiac fibroma 
  • 1:60,000

Cowden Syndrome

  • Autosomal dominant
  • Chromosome 10q22-23 -> mutation of PTEN gene
  • Lhermitte-Duclos disease  = dysplastic cerebellar ganlgiocytoma (cerebellum)
  • Mucocutaneous lesions (trichlemmomas) 
  • GIT hamartomatous polyps 
  • Thyroid -> goitre, adenomas
  • Fibrocystic disease of the breast
  • Increased risk of cancers (breast, thyroid)
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