Coffee spot is a common light brown or brown pigment spot with different sizes, round, oval or irregular shape, clear boundary and smooth surface, which is not higher than the skin surface (Figure 1). When genetic factors appear at birth or shortly after birth, they should be considered. According to foreign statistics, 2.5% of newborns have at least one coffee spot, some of which are simple coffee spots unrelated to syndrome, and there are many coffee spots (more than 6, diameter before puberty >; 0.5cm > 1.5cm after puberty is common in neurofibromatosis type ⅰ (NF 1 for short).
Neurofibromatosis type I is one of the most common hereditary diseases, with a prevalence rate of about 1/3000-l/4000, of which about 50% cases are caused by spontaneous gene mutation. The clinical manifestations are multiple skin, subcutaneous neurofibroma, coffee spot, freckle pigmentation and iris hamartoma (Lisch nodule). There are also some rare complications: skeletal abnormalities, neuropsychological disorders, malignant tumors such as optic glioma, malignant peripheral neurilemmoma and so on.
Diagnosis and differential diagnosis of NF 1
3. 1 NF 1 National Institutes of Health (NIH) diagnostic criteria (NF 1 can be diagnosed as having the following two characteristics)
Diagnostic criteria generally appear age.
A.6 or more brown spots (diameter before puberty >; 0.5cm after puberty >1.5cm) (after birth)
B more than 2 neurofibromas of any type (adolescence)
Or 1 plexiform neurofibroma (after birth)
C. Freckle pigmentation in the groin or armpit (childhood)
D. Osteopathy (sphenoid bone, tibial dysplasia, scoliosis, etc. (childhood)
E. More than 2 Lee's nodules (childhood)
F. Optic glioma (childhood)
G. first-degree relatives have NF 1.
Multiple coffee spots (more than 6)
Freckle-like pigmentation spots in groin/armpit (small in diameter, similar to freckles, appearing and increasing with age)
However, because these manifestations of NF 1 are related to age, except for coffee spots, all of them do not appear or have obvious manifestations in childhood, so it is difficult to diagnose NF 1 early in clinic according to the diagnostic criteria of National Institutes of Health (NIH). In addition, there are many genetic syndromes related to coffee spots, such as Legius syndrome (also known as NF 1 like syndrome), which mainly shows multiple coffee spots and freckled pigmentation at folds, and may be complicated with cognitive impairment, developmental retardation, giant skull and so on. , but no neurofibroma and malignant tumor. ), leopard syndrome (possibly heart disease), mottle disease, etc. These diseases are sometimes difficult to distinguish in the early clinical stage, and their prognosis is different from the follow-up concerns. Therefore, the early diagnosis of patients with coffee spots (especially infants) is of great significance. Gene detection is an effective identification method.
The incidence of malignant tumor in patients with NF 1 is about 1-5%. According to foreign statistics, if there is no malignant tumor, the life expectancy is not much different from that of normal people. However, complications such as neurofibroma are a huge physiological and psychological burden for patients with NF 1. There is no effective treatment for common manifestations such as cutaneous neurofibroma and plexiform neurofibroma in the late stage of NF/KLOC-0 (there have been many clinical trials of related drugs in the world), and prenatal diagnosis (such as amniocentesis and preimplantation gene diagnosis) is still the main intervention measure to prevent the next generation from getting sick. Based on the molecular genetic data of patients with NF 1 gene mutation, prenatal diagnosis can be made in the future. If the neurofibroma of the skin particularly affects the appearance or oppresses the surrounding organs and tissues, it can be considered to be removed. In addition, patients can consider regular follow-up of whole body MRI (especially head and spine) to prevent and treat complications such as malignant tumors and skeletal deformities at an early stage.
Milk coffee spot can't prove that you have neurofibroma, so if you have neurofibroma unfortunately, what medicine can treat neurofibroma? How is neurofibroma treated?
Xianliukangfu Powder, a clinical traditional Chinese medicine prescription, is a treatment method with positive curative effect, which can mobilize the body's immunity and enhance the anti-cancer ability, thus inhibiting the growth, metastasis and recurrence of tumors, and has become a more efficient, safer and more reliable method for treating neurofibroma.