General
- Phakomatosis [fak´ōmətō´sis] pl. phakomatoses
- Etymology: Gk, φακός phako: spot, lens, oma: tumor, osis: condition
Syndrome and its associated CNS tumours
Syndrome | CNS tumour |
Von hipple Lindau | Hemangioblastoma |
Tuberous sclerosis | Subependymal giant cell astrocytoma |
NF1 | Optic glioma Pilocytic astrocytoma Neurofibroma |
NF2 | Vestibular schwannoma Meningioma Ependymoma |
Turcot syndrome (BTP syndrome) | GBM, AA, Medulloblastoma, Pineoblastoma |
Li fraumeni | Astrocytoma PNET |
Cowden | Meningomas Lhermitte-duclos disease |
Neurocutanoeus disorders
General
- Definition
- Group of conditions, each with
- Unique neurologic findings
- Benign cutaneous lesions (NB: both skin and the CNS derive embryologically from ectoderm),
- With dysplasia of other organ systems (often including the eyes)
- 5 that are more of concern to neurosurgeon
- NF1 & 2
- Sturge Webber disease
- VHL
- Tuberous sclerosis
- Naevoid basal cell carcinoma
- Schwannomatosis
Types of phakomatoses
Main phakomatoses
- Neurofibromatosis 1
- Neurofibromatosis 2
- Tuberous Sclerosis C.
- Sturge–Weber s.
- Von Hippel Lindau d.
Vascular phakamatoses
- PHACE Syndrome
- Ataxia Telangiectasia
- Wyburn–Mason
- HHT
- Blue Rubber Bleb Nevus
- Meningioangiomatosis
Melano phakamatoses
- Hypomelanosis of Ito
- Incontinentia Pigmenti
- Waardenburg Syndrome
- Neurocutaneous Melanosis
- Nevus of Ota
- McCune–Albright
- Nelson Syndrome
Other rare phakomatoses
- Basal Cell Nevus Syndrome
- Organoid Nevus Syndrome
- Cowden–Lhermitte–Duclos (COLD)
- Epidermal Nevus Syndrome
- Encephalocraniocutaneous Lipomatosis
- Xeroderma pigmentosum
Difference between NF1 and NF2
Current designation → | Neurofibromatosis 1 (NF1) | Neurofibromatosis 2 (NF2) |
Alternate term | von Recklinghausen’s disease | Bilateral acoustic NFT AKA MISME syndrome |
Obsolete term | Peripheral NFT | Central NFT |
U.S. prevalence | 100,000 people | ≈ 3000 people |
Incidence | 1/3000 births | 1/40,000 |
Inheritance | AD | AD |
Sporadic occurrence | 30–50% | > 50% |
Gene locus | 17 (17q11.2) | 22 (22q12.2) |
Gene product | Neurofibromin | Schwannomin (merlin) |
Vestibular schwannomas (VS) | Uncommon, ≈ never bilateral | Bilateral VSs are the hallmark |
Cutaneous schwannomas | No | 70% |
Lisch nodules | Very common | Not associated |
Cataracts | Not associated | 60–80% |
Skeletal anomalies | Common (scoliosis…) | Not associated |
Pheochromocytoma | Occasional | Not associated |
MPNSTᵃ | ≈ 2% | Not associated |
Intellectual impairment | In ≥ 50% | Not associated |
Most common associated intramedullary spinal cord tumors | Astrocytoma | Ependymoma |
- ᵃmalignant peripheral nerve sheath tumor
Genetic mosaics
- Depends on
- timing of post zygotic mutation
- Amount of cells involved
Syndromes with café au lait spots
- Legius syndrome
- (Neurofibromatosis type 1-like syndrome)
- An autosomal dominant RASopathy often mistaken for NF-1.
- Patients show multiple café-au-lait spots, axillary freckling, lipomas, macrocephaly, learning disabilities among others.
- It lacks Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas and malignant peripheral nerve sheath tumors.
- McCune Albright
- Coast of Maine Café au lait spots
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