Neurofibromatosis

Neurofibromatosis is an autosomal dominant disorder characterized particularly by cafe-au-lait spots and fibromatous tumors of the skin.

Although the Elephant Man, Joseph Merrick, has often been thought to have had von Recklinghausen disease, it has been suggested that Proteus syndrome is a more likely diagnosis.

The disease afflicts about 1.5 million people worldwide, of which some 100,000 are in the USA.

1. Genetic defects and diseases
2. Congenital anomalies of nervous system

1. Unsightly skin blemishes
2. Optic neuroma
3. Intellectual disability
4. Hypoglycaemia
5. Hypertension
6. Freckles
7. Curvature of spine
8. Acoustic neuroma

1. Unusually rapid human growth

1. Sotos syndrome
2. Proteus syndrome

1. Disease