Pediatric Basal Cell Nevus Syndrome
Introduction
Introduction to Pediatric Basal Cellular Syndrome Basal cell nevus syndrome (basalcellnevussyndrome) is an autosomal dominant hereditary disease involving many organs. The clinic includes six major organ systems including skin, teeth, bones, eyes, nerves and reproduction. There are about 38 abnormalities, including basal cell carcinoma, jaw cyst, palm or foot keratosis and skeletal abnormalities. basic knowledge The proportion of sickness: 0.2% - 0.3% Susceptible people: children Mode of infection: non-infectious Complications: jaw cyst basal cell carcinoma congenital hydrocephalus cryptorchidism
Cause
Pediatric basal cell nevus syndrome
Causes:
This symptom is an autosomal dominant genetic disease with a penetrance rate as high as 95% and the cause is unknown.
Pathogenesis:
There is a hypothesis that this syndrome is a maternal plaque caused by primary lesions of systemic mesenchymal tissue. The various epithelial lesions are also induced by abnormal connective tissue. This is to be studied. Fitzpatrick suggested that the disease may be Related to chromosomal aberrations, but not confirmed, Liu Xixian et al performed GTG banding karyotype analysis in some cases, no abnormalities in chromosome structure and number, SCE frequency test results were extremely significant, SCE significantly increased in multiple cysts or Tumors, also believe that the disease through the dominant autosomal inheritance, its penetrance can be as high as 95%, the syndrome involves a variety of organs, the result of multiple effects of the gene.
Prevention
Pediatric basal cell nevus syndrome prevention
Genetic counseling must be carried out, and early diagnosis should be carried out in childhood as much as possible, and corresponding measures should be taken. Precautionary measures should be carried out from pre-pregnancy to prenatal:
Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
Complication
Pediatric basal cell nevus syndrome complications Complications jaw cyst basal cell carcinoma congenital hydrocephalus cryptorchidism
Multiple deformities, multiple benign cysts and tumors of the skin, multiple jaw cysts, basal cell carcinoma; rib bifurcation, shortening of the distal end of the palm and thumb, kyphosis, scoliosis or bony bonding, etc., may have congenital brain Sedimentation, dural calcification, cryptorchidism, congenital blindness, choroidal fissure and optic nerve defects.
Symptom
Pediatric basal cell nevus syndrome symptoms common symptoms mandibular cyst hydrocephalus scoliosis
The syndrome is currently known as skin, bone, eye, nerve, reproduction and other six major organ systems, about 38 abnormalities, including basal cell carcinoma, jaw cyst, palm or plantar keratosis and skeletal abnormalities see.
1. Skin changes: for the appearance of multiple sputum-like basal cell carcinoma or multiple benign cysts and tumors in the skin of exposed or non-exposed areas during childhood or adolescence, such as epithelial cysts, lipomas, fibroids, etc.
2. Poor keratosis of athlete's foot and palm skin: keratosis of the foot and palm skin, common in children and adolescence, a large number, diameter 0.1 ~ 0.3cm, due to skin keratinous defect, telangiectasia, it is red The pressure is whitened, which is caused by the differentiation of epidermal basal cells into spine cells and defects in enzyme function during keratin formation.
3. Multiple jaw cysts: The following jaws are more common, which is the most prominent clinical manifestation of X-ray examination.
4. Abnormal skeletal system: including rib bifurcation, shortening of the distal end of the palm and thumb, kyphosis, scoliosis or bony union.
5. Others: may have congenital hydrocephalus, dural calcification, cryptorchidism, congenital blindness, choroidal fissure and optic nerve defects.
This symptom is particularly sensitive to radiation-induced carcinogenesis. Some patients have multiple basal cell carcinomas in the irradiated area within 6 months to 3 years after irradiation. After 24 hours of UV irradiation, the frequency of SCE induced is higher than that of normal people. It may be patients. Cells lack the normal ability to repair DNA damage caused by carcinogens. Therefore, X-ray or ultraviolet radiation should be avoided in the diagnosis and treatment of patients with this disease to reduce the induction of cancer.
Examine
Examination of pediatric basal cell nevus syndrome
Blood, urine, and routine examinations are generally found to be abnormal. Skin biopsies can be seen in basal cell carcinoma, cysts, lipomas, fibroids, and the like.
X-ray examination of the most prominent clinical manifestations of multiple jaw cysts, can be found rib bifurcation, kyphosis, scoliosis or osseointegration, dural calcification, CT examination of hydrocephalus, B-ultrasound can be found cryptorchidism Wait.
Diagnosis
Diagnosis and diagnosis of basal cell nevus syndrome in children
This syndrome is characterized by multiple basal cell carcinomas that can occur from childhood to adulthood. It is found in patients with skin that is not exposed to sunlight. Patients with similar skin tumors have been found in several generations. The incidence of this disease is not determined, but at the base. About 0.5% of patients with cell cancer. In the general population, when only one person is sick or only has skin cysts or jaw cysts, the diagnosis of this disease is often neglected, and most cases are in childhood. Or adolescents have already developed symptoms. Most of Liu Xixians cases have certain clinical manifestations at the age of 9 years, and only after several decades of diagnosis, this disease is not only basal cell tumors have been malignant, but also with genetic diseases. Offspring, therefore, genetic counseling must be carried out, as pediatricians should try to make early diagnosis in childhood and take corresponding measures.
Must be differentiated from other skin tumors.
