Neurofibromatosis (NF) is an autosomal dominant trait manifested by changes in the skin, nervous system, bones, and endocrine glands. These changes include a variety of congenital abnormalities, tumors, and hamartomas. Two major forms of NF are recognized:
- Classic von Recklinghausen’s NF, termed NF1 and first described in 1882;
- Central, or acoustic NF, termed NF2. Both types have cafe-au-lait macules and neurofibromas, but only NF2 has bilateral acoustic neuromas (unilateral acoustic neuromas are a variable feature of NF1). An important diagnostic sign present only in NF1 is pigmented hamartomas of the iris (Lisch nodules).
Causes of Neurofibromatosis
Action of an abnormal gene on cellular elements derived from the neural crest: melanocytes, Schwann cells, endoneurial fibroblasts.
Symptoms of Neurofibromatosis
- Multiple neurofibromas on the skin and under the skin, the sub-cutaneous lumps are characteristic of the disease and increase in number with age.
- Various other skin phenomena such as freckling of the groin and the arm pit.
- During adolescence, benign tumors may develop on the skin (cutaneous), under the skin (subcutaneous), and in connective nerve tissue (neurofibromas)
- Rubbery tumors of the skin called nodular neurofibromas.