Neurofibromatosis and Tuberous Sclerosis

Question 1

What is neurofibromatosis?

Answer 1

It is a autosomal dominant condition which causes benign tutor growth in nervous tissue.

Type 1: PNS + CNS lesions
Type 2: CNS lesions

Question 2

What are some of the skin and eye changes associated with neurofibromatosis 1?

Answer 2

Six or more café au lait spots >5mm in size (pre puberty or >15mm after puberty)

Axillary and groin freckles

Lisch nodules (nodules in the iris which can be seen with a split lamp)

Question 3

What are the clinical features of neurofibromatosis 1?

Answer 3

Skin:

• Cafe au lait spots
• Axillary freckles

Eyes:

• Lisch nodules
• Optic glioma

Neoplastic:

• Neurofibromas (nerve cell sheath tumour) near the skin usually but may occur elsewhere.
• May develop nerve sheath cell tumours
• Increased risk of leukaemia.

Physical:

• Short stature
• HTN
• Scoliosis
• Macrocephaly

Question 4

What are the clinical features of neurofibromatosis 2?

Answer 4

The most common clinical features are the development of bilateral acoustic neuromas as well as cataracts developing in childhood.

Tumours can occur elsewhere in the CNS causing symptoms such as: changes in vision, hemiparesis, and hydrocephalus.

Question 5

What is tuberous sclerosis?

Answer 5

Tuberous sclerosis complex is an autosomal dominant disease characterised numerous benign tumours which can grow in the:

• skin
• brain
• kidneys
• heart
• lung

As well as varying degrees of developmental problems

Question 6

What are the characteristic skin abnormalities seen in tuberous sclerosis?

Answer 6

Depigmented ‘ash leaf’ shaped patch which fluoresce under UV light (Wood’s light)

• Raised thickened patches of skin (shagreen patches) usually over the lumbar spine.
• Adenoma sebaceum (angiofibromata) has a butterfly distribution over the bridge of the nose and cheeks, which are unusual before the age of 3 years.
• Growths under the nail bed

Question 7

Describe the main clinical features of tuberous sclerosis?

Answer 7

Tuberous sclerosis often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems.

As well as this there are also any symptoms associated with the benign tumours (e.g polycystic kidneys = CKD etc)