Von Recklinghausen’s Disease
This condition is transmitted as an autosomal dominant and is characterized by multiple tumors affecting both the central and peripheral nervous system. Also known as Neurofibromatosis, it is estimated to occur in 1 in 2000 to 3000 live births with slight preponderance to males.
Clinically, affected individuals will show the following:
– cafe-au-lait spot which are multiple , light brown with increased melanin deposition over the trunk area
– Axillary freckles
– 10% of patient’s have seizures, mental retardation,
speech and motor delay
– intracranial tumors
– peripheral nerve tumors which may arise at any age and may involve any of the major nerves. These tumors are painless, large and palpable
– scoliosis
The diagnosis of this condition is made in the presence of multiple cafe-au-lait spots which increase in number with age and the development of multiple neurofibromas later on.
There is no specific treatment to this disease. Surgical resection is usually indicated for a solitary intracranial tumor. Symptomatic peripheral tumors are removed by surgery. And the most important part of the management is genetic counselling.