Pediatric Leopard Skin Syndrome
Introduction
Introduction to Pediatric Leopard Skin Syndrome Leopardsyndrome is also known as multiple black sputum syndrome, diffuse black sputum syndrome, heart skin syndrome, neurocardiomyopathy, Moynahan syndrome, heart freckle syndrome, etc. Dominant hereditary diseases, characterized by multiple black sputum, abnormal electrocardiogram, congenital cardiovascular abnormalities, abnormal eyes, genital abnormalities, skeletal abnormalities, physical developmental disorders, neurological deafness, central nervous system abnormalities, and systemic rashes Skin" pigment spots. basic knowledge The proportion of sickness: 0.0001% - 0.0002% Susceptible people: children Mode of infection: non-infectious Complications: mental retardation epilepsy
Cause
The cause of leopardy syndrome in children
Cause:
Intrinsic is an autosomal dominant hereditary disease.
Pathogenesis
Its main feature is multiple black sputum. Skin pigmentation is caused by increased secretion of pituitary melanocyte stimulating hormone (MSH), which stimulates melanocytes to produce excessive melanin. When melanin metabolism or epidermal melanin deposition is disordered, it is more frequent. Sexual black sputum, the pathogenesis is still unclear.
Prevention
Pediatric leopard skin syndrome prevention
Prevention of leopard skin syndrome in children should pay attention to actively prevent hereditary diseases and do a good job in consulting for genetic diseases. Genetic diseases are not always manifested at birth. Some in childhood, some in adolescence, and some even gradually show symptoms and signs after adulthood. If you can make a diagnosis before symptoms appear, you can control the occurrence of some genetic diseases. Population screening for genetic diseases with high incidence and high risk is an important means of prevention before symptoms appear. Pregnant women must undergo a comprehensive examination by a doctor before giving birth to reduce the birth of such children and reduce the incidence of such diseases.
Complication
Pediatric leopard skin syndrome complications Complications, mental retardation, epilepsy
Associated with multiple malformations and nervous system dysfunction, such as mental retardation, epilepsy and so on.
Symptom
Pediatric leopard skin syndrome symptoms Common symptoms Whole body skin scattered in black eye nystagmus diarrhea sputum black sputum stenosis pulmonary stenosis cryptorchidism ovarian absent or hypoplasia bone cyst strabismus
In addition to multiple black sputum, there are abnormal ECG, congenital cardiovascular malformations, abnormal eyes, widened eye distance, abnormal reproductive system, abnormal bones, physical developmental disorders, neurological deafness and central nervous system abnormalities.
Clinical manifestation
(1) Skin manifestation: The whole body skin is scattered in black sputum, diameter 2 ~ 8mm, flat, brown or dark brown, face, neck, trunk more, can also appear in the limbs, palms, feet, scalp, genitals and so on.
(2) Cardiovascular abnormalities: pulmonary stenosis, cardiomyopathy, aortic coarctation, abnormal P wave in left atrial myxoma and electrocardiogram, prolonged PR interval, QRS prolongation, bundle branch block and ST-T changes.
(3) skeletal system: lesions are generally mild, developmental disorders may occur, eye distance is too wide, funnel chest, kyphosis, scoliosis, etc., mandibular protrusion, pterygium, bone cyst and fibrous bone dysplasia.
(4) Neurological deafness: This type of lesion is relatively rare.
(5) genitourinary gland hypoplasia, hypospadias, ovarian absent or hypoplasia, cryptorchidism.
(6) Eye: strabismus, nystagmus, drooping eyelids.
(7) Neuropsychiatric system: mild to moderate mental retardation, autonomic nervous system disorder, epilepsy, etc.
Examine
Pediatric leopard skin syndrome examination
Endocrine examination can detect gonadal dysplasia, and concurrent infection with peripheral blood leukocyte count and neutrophil count.
Do X-ray, chest bone examination, electrocardiogram examination, B-ultrasound examination, EEG examination.
1. Electrocardiogram examination showed abnormal P wave, prolonged PR interval, QRS prolongation, bundle branch block and ST-T abnormal change.
2. X-ray examination to do X-ray chest X-ray, bone examination, can be found in various deformities and abnormal lesions of the bone.
3. EEG examination EEG can see abnormal waveforms.
4. B-ultrasound found that the ovary lacked lesions such as cryptorchidism.
Diagnosis
Diagnosis and diagnosis of leopard skin syndrome in children
According to the seven characteristics of clinical manifestations can be diagnosed.
Different from other melanin disorders.
