Neurofibromatosis (autosomal dominant condition)

Type I

Clinical features (2 out of 7)

1. >6 café au lait spots (>15mm in diameter in adults/ >5mm in diameter in adolescents)
2. Axillary or inguinal freckles
3. >2 or more neurofibromas (compression of nerve root, maglinant potential)
4. Optic nerve glioma (visual loss)
5. Lisch nodules: harmatoma on iris
6. Sphenoid dysplasia
7. First degree relative of NF-1

Metabolic disturbance:

1. Hypertension
2. Phaechromocytoma
3. Renal artery stenosis
4. Osteoporosis
5. Vitamin D deficiency

Increased risk of GIST

Shortness and macrocephaly

Scoliosis

Type II

Clinical features (1 out of 3)

1. Bilateral acoustic neuromas, visible on MRI

2. Unilateral acoustic neuroma + first degree relative with NF 2
3. First degree relative with NF 2 + 2 out of 4 conditions (a. schwannoma, b. glioma, c.
meninigioma, d. juvenile cataract)

How to differentiate between NF-1 and NF-2

1. Café au lait spots less

2. No axillary or inguinal freckles
3. Neurofibroma no maglinant potential
4. Posterior subcapsular lenticular opacities: causes of juvenile cataract

Tuberous sclerosis (autosomal dominant)

Clinical features:

Skin
 1. Facial angiofibromas/ forehead plaques
2. Ashleaf patches
3. Shagreen patches
4. Ungal fibromas/periungal fibromas

Eye

Retinal angiofibroma (phakomas)

CNS

1. Corticol tuber
2. Subependymal nodules
3. Astrocytomas
4. Learning difficulties
5. Epilepsy

Heart

Rhabdomyomas

Kidney

1. Angiomyolipomas
2. Autosomal dominant polycystic kidney disease

Lung

Lymphoangioleiomyomas

Multiple endocrine neoplasias

MEN 1 (PPP)

1. Pituitary (hyperprolactinoma)
2. Pancreas (insulinomas, VIPoma, Zollinger Ellison syndrome)
3. Parathyroid (hyperparathyroidism)

MEN 2 type A

1. Thyroid (medullary carcinoma of thyroid)

2. Adrenal (phaeochromocytoma)
3. Parathyroid (hyperparathyroidism)

MEN 2 type B

1. Thyroid (medullary carcinoma of thyroid)

2. Adrenal (phaechromocytoma)
3. Mucosal and GI abnormalities (ganglioneuromatosis), marfanoid habitus