Genetics- Conditions Flashcards
What is neurofibromatosis 1?
Genetic disorder characterised by the development of multiple benign tumours of nerves and skin (neurofibromas) and areas of abnormal skin colour (pigmentation).
What type of condition is Neurofibromatosis 1?
Genetic condition- Autosomal dominant
What is neurofibromatosis 1 characterised by?
The development of multiple benign tumours of nerves and skin (neurofibromas) and Areas of abnormal skin colour (pigmentation).
What causes neurofibromatosis 1?
Defect in 17q tumour suppressor gene
What are the main features of Neurofibromatosis 1?
- Cafe au lait spots (6+)
- Neurofibromas (2+)
- Axillary Freckling
- Lisch nodules (iris specks)
- Optic glioma
- Thinning of long bone cortex
How many cafe au lait spots are diagnostic of neurofibromatosis 1?
6+
How many neurofibromas are diagnostic of neurofibromatosis 1?
2+
How many clinical features need to be present for the diagnosis of Neurofibromatosis 1?
2 or more clinical presentations
What is there annual review of in someone with Neurofibromatosis 1?
- BP
- Spine for scoliosis
- Tibia angulation
- Visual acuity/fields
Is there a cure for neurofibromatosis 1?
No- there is no cure
What is neurofibromatosis 2 commonly associated with?
Acoustic neuromas
What is neurofibromatosis 2 characterised by?
Benign tumours develop occur on the nerves for balance and hearing leading to the inner ear.
What type of condition is neurofibromatosis 2?
Hereditary condition
What causes neurofibromatosis 2?
NF gene on chromosome 22
What are the main features of Neurofibromatosis 2?
- Acoustic neuromas- usually bilateral
- CNS and spinal tumours
- A few CAL spots
Is there a cure for neurofibromatosis 2?
No
What type of condition is Tuberous sclerosis?
A rare multisystem genetic disease
What is tuberous sclerosis characterised by?
Benign tumours to grow in the brain and on other vital organs such as the eyes, heart, lungs, liver, kidneys, and skin.
What causes tuberous sclerosis?
Two genes on different chromosomes with identical phenotypes (TSC1, TSC2).
What are the 2 genes that cause tuberous sclerosis?
TSC1 and TSC2
What is the genetic inheritance of tuberous sclerosis?
Autosomal dominant
What is the classic triad of tuberous sclerosis?
1) Skin lesion
2) Epilepsy
3) Learning difficulty
What skin lesions can tuberous sclerosis present with?
Depigmented macules Angiofibromas Fibrous plaque forehead Shagreen patches Ungual fibromas
Which seizures are associated with tuberous sclerosis?
Infantile spasms
Myoclonic seizures
