Café au lait spots must be neurofibroma

There are many skin diseases on the human body, one of which is called café au lait spots. Café au lait spots are mainly caused by genetic reasons. Their symptoms are the growth of some brown or black marks on the patient's skin surface. Their shapes are also varied, which has a great aesthetic impact on the skin surface. However, modern medical research has shown that there is a certain relationship between café au lait spots and neurofibroma. So does a café au lait spot necessarily mean neurofibroma?

Café au lait spots are hereditary skin diseases. In these spots, the amount of melanin in the melanocytes and keratinocytes increases, and the melanocytes become overactive, producing large amounts of melanin, forming pigmented spots. There are many reasons why it occurs, which vary from person to person. Café au lait spots are light brown spots, ranging from tan to dark brown, of varying sizes, round, oval or irregular in shape, with clear borders and a smooth surface. Some people believe that 90% of neurofibromatosis patients have café-au-lait spots. If there are 6 café-au-lait spots with a diameter greater than 1.5 cm, the patient often has neurofibromatosis.

The pathological changes of café au lait spots include increased epidermal melanin, especially in the basal layer, giant melanosomes in DOPA-stained melanocytes and keratinocytes in the basal layer, and normal or slightly increased basal layer melanocytes.

A single café au lait spot is often just a type of birthmark and has no adverse effects on human health. However, if there are a large number of café au lait spots and they are gradually getting larger, you should be alert to the possibility of "neurofibroma".

Neurofibromatosis is a common hereditary disease with an incidence of about 1/3000, and type 1 is the most common clinically. Before puberty, there is little appearance abnormality other than the appearance of café au lait spots on the skin. Later, some patients will develop neurofibromas of the skin, optic nerve gliomas of the eyes, and tumors of various organs in the body. Sometimes, blood vessel stenosis may lead to high blood pressure or affect bone growth, leading to scoliosis. A few severe cases can sometimes cause abnormal limb growth or lymphedema, which can look like an elephant's leg.

Neurofibromatosis, like café au lait spots, is also a dominant genetic disease. The chance of the disease occurring again in the next generation of the patient is about 1/2. The other half of the patients are caused by their own gene mutations, which have nothing to do with their parents. In addition to the fact that the onset of symptoms is related to age, there are also great differences in symptoms among family members or different patients. Some people may only have café au lait spots throughout their lives, while others may develop various neurofibromas or even malignant tumors very early.

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