Disease Profiles: Genetic

Question 1

Describe the clinical presentation of tuberous sclerosis

Answer 1

Infantile seizures, ash-leaf macules, Shargreen patches and enamel pitting, tumours

Question 2

Name the gene associated with neurofibromatosis type I

Answer 2

NF1

Question 3

Name 4 types of tumours associated with tuberous sclerosis

Answer 3

Periungual fibromas, facial angiofibromas, hamartomas (angiomyolipomas), bone cysts

Question 4

Define epidermolysis bullosa

Answer 4

A group of genetic skin fragility conditions involving mutations in genes involved in skin structure and adhesion

Question 5

Define tuberous sclerosis

Answer 5

Autosomal dominant condition of variable severity, characterised by a range of benign tumours in various organ systems of the body

Question 6

Define neurofibromatosis type I

Answer 6

Genetic condition that causes tumours along the nervous system

Question 7

Describe the clinical presentation of neurofibromatosis type I

Answer 7

Cafe au lait macules, neurofibromas, plexiform neuroma, axillary or inguinal freckling, optic glioma, 2 or more Lisch nodules, distinctive bony lesion