Neurofibromatosis is an autosomal dominant disease that causes multi-system damage due to abnormal development of neural crest cells, and can be divided into type I and type II, with most children belonging to type I. The main clinical features of neurofibromatosis are cafe au lait spots and multiple neurofibromas.
The main clinical features of type I neurofibromatosis are café-au-lait spots and multiple neurofibromas.
Almost all patients can see cafe au lait spots at birth, which are light brown, of different sizes and shapes, with clear boundaries with the surrounding skin, not elevated in the skin, not flaky, and with no sensory abnormality, and are usually found in the trunk area, and have a tendency to increase in number and enlargement with the growth of age.
Dermatofibromas and fibromyxomas are mainly distributed on the trunk and face, and also involve the limbs.
Some normal children sometimes see 1~2 coffee spots, if the number of coffee spots is as many as 5~6 or more, and the diameter is larger than 1.5cm, it can be diagnosed as neurofibromatosis.