Phakomatoses / Phakomatosis (or "neurocutaneous syndromes")
Conditions included are:
- Neurofibromatosis
- Tuberous sclerosis
- Ataxia telangiectasia
- Sturge-Weber syndrome
- von Hippel-Lindau disease
- Incontinentia pigmenti
- Nevoid basal cell carcinoma syndrome
Important points commonly asked in various examinations :
NF1 (Most common phakomatosis)
= von Recklinghausen disease
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NF2
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Mutation -
Chromosome 17 : Neurofibromin gene |
Chromosome 22 : Merlin gene = schwannomin
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Other MCQ points –(findings / associations)
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Other MCQ points –(findings / associations)
Mnemonic STEM where T is for TWO (NF2)
About 70% of NF2 patients also have skin tumours.
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2. Tuberous sclerosis (Bourneville disease) - inheritance AD
Triad :
- Mental retardation
- Epilepsy
- Adenoma sebaceum
Other MCQ points : (findings / associations)
- Ash leaf spots
- Shagreen patches (Connective tissue nevi , yellowish, over lumbar region)
- Systemic hamartomas ( brain , retina , viscera )
- Subependymal giant cell astrocytoma. (near foramen of monro)
3. Sturge-Weber syndrome (Encephalofacial angiomatosis)
MCQ points : (findings / associations)
- Naevus flammeus (Port wine stain - on the forehead and upper eyelid of one side of the face )
- Hemangiomas - Choroidal , Meningeal
- Congenital glaucoma
- Epilepsy
- CT scan - Cortical atrophy , Tram track calcifications.
Gene mutation : Chromosome 3p25 (same gene is mutated in Sporadic RCC)
MCQ points : (findings / associations)
- Capillary hemangiomas of retina or optic nerve head
- Hemangioblastoma of cerebellum , spinal cord , medulla or pons.
- Tumours - renal carcinoma and phaeochromocytoma
- Cysts - kidneys, liver, pancreas, epididymis, ovary and lungs
- Polycythaemia
MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel
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