Flashcards in NEUROCUTANEOUS SYNDROMES Deck (13):
What is the inheritance pattern of neurofibromatosis type 1?
What is the incidence of live births affected by neurofibromatosis type 1?
1 in 4000
What proportion of individuals affected by neurofibromatosis type 1 are the result of a new mutation?
What chromosome is the mutation for neurofibromatosis type 1 found on?
What are the clinical features of neurofibromatosis type 1?
Cafe au lait patches - must be at least 6 for diagnosis
Lisch nodules (pigmented hamartomas on the eye)
Neurofibromas on the peripheral nerves (may be palpable)
Tumours of the CNS (benign or malignant)
Learning difficulties - ADHD, speech and language, Asperger's
How do we manage children with neurofibromatosis type 1?
Monitored each year for growths. Surgical removal of tumors is an option, however the risks involved should be assessed first.
What is the characteristic features of neurofibromatosis type 2, which is rarely a feature of neurofibromatosis type 1?
Bilateral acoustic neuroma (tumours in the region of the VIIIth cranial nerve)
What is the inheritance pattern of tuberous sclerosis?
Autosomal dominant, although up to 75% of cases represent new mutations.
What are the classic clinical features of tuberous sclerosis?
Facial angofibromas, also called adenoma sebaceum (often in a butterfly distribution across the face)
Hypopigmented macules called ash leaf spots
Shagreen patches (roughened patches of skin over spine)
Widespread tumours distributed across many organs
Which organs are classically affected by benign tumours and cysts in tuberous sclerosis?
Brain and eyes
What is the best way to examine ash leaf spots (the hypopigmented macules seen in tuberous sclerosis)?
Best seen with a Wood's light
What are the clinical features of Sturge-Weber?
Unilateral facial naevus (port wine stain) in distribution of trigeminal nerve
Seizures - caused by angiomas involving the leptomeningeal vessels in the brain
Haemangiomas of the spinal cord