Pediatric Pigmentation Disorders
Introduction
Introduction to pediatric pigmentation disorders Incontinentiapigmenti, also known as pigment incontinence, Bloch-Sulzberger syndrome, Bloch-Siemens syndrome, melanosiscoriadegenerarativa, is a rare complex genetic syndrome with characteristic skin changes. Can be associated with eye, bone and central nervous system malformations and abnormalities. basic knowledge Sickness ratio: 0.0012% Susceptible people: children Mode of infection: non-infectious Complications: nystagmus, mental retardation, cleft palate
Cause
Causes of pediatric pigmentation disorders
Causes:
The condition is inherited by autosomal dominant or concomitant.
Pathogenesis:
Women have two X chromosomes, so the condition is not serious, and the male abnormal gene is located on only one X chromosome, so the condition is serious, and it often dies in the fetal period. Therefore, it is more common in female patients, Zhang Yuchang et al. In one group of cases, there was one boy. Carney reported that the ratio of female to male was 97:3. The chromosome analysis of 7/18 patients was abnormal. It has been reported in China that one patient was exposed to radiation during the embryonic period and caused genetic mutation. It develops after 2 weeks of birth.
Prevention
Pediatric pigmentation prevention
Precautions should be taken 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.
The prenatal diagnostic techniques used are:
1 amniocytes culture and related biochemical examination (amniotic puncturing time is 16 to 20 weeks of pregnancy is appropriate).
2 pregnant women blood and amniotic fluid alpha fetoprotein determination.
3 ultrasound imaging (applicable in about 4 months of pregnancy).
4X-ray examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformities.
The sex chromatin of 5 villous cells was measured (40 to 70 days after conception), and the sex of the fetus was predicted to help diagnose the X-linked genetic disease.
6 application gene linkage analysis.
7 fetal mirror examination.
Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.
Complication
Pediatric pigmentation complications Complications, nystagmus, mental retardation, cleft palate
After skin damage can leave pigment spots, decreased vision, nystagmus, mental retardation, spastic paralysis and epilepsy, can also be associated with cleft palate, cleft lip, spina bifida, gnome, microcephaly and so on. The diseased children are often accompanied by nail dysplasia, often with hair loss. About 30% of sick children have neurological symptoms, which can be characterized by microcephaly, mental retardation and infantile spasms. Some children may have cataracts, optic atrophy, etc., and some may have delayed teeth or incomplete teeth. There is no specific treatment for this disease, skin changes have gradually reduced, and some children can recover, but the accompanying baldness and lesions of the teeth, eyes and central nervous system often do not improve.
Symptom
Symptoms of pediatric pigmentation disorders Common symptoms Pigment abnormal pigmented pimples blister or bullae damage herpes sprouts delayed choroidal retinal hemorrhage alopecia nystagmus
This disease is a disease of abnormal skin pigmentation.
Skin damage
(1) Skin damage performance: Most of the skin lesions of this symptom are present at birth, and the latest occurs at 3 months after birth. The inflammation stage can occur in the fetal period. There is no progress after birth, and the initial erythema, papules, Then it is herpes or bullae, which is mung bean to broad bean size, the content is clear, the blister wall is tight, striped or strip-like densely arranged, not distributed according to skin lines or nerve segments, herpes, bullae, etc. last for several months, Recurring, occurs in the side of the trunk, around the breast and limbs, etc., herpes often does not rupture or rupture after some oozing, herpes absorb or form an induration, and then leave pigmentation spots.
Symptoms can occur in the hands, back of the foot, especially the toes, and the plaque can also leave pigmentation spots.
Pigmentation spots can be the only abnormalities, and can also be the first manifestations or inflammatory lesions. The sputum changes and then appear. The forms of pigmented spots are very diverse, mostly irregular water-like, spiral or map-like, and their color is gray. Blue, dark gray blue, yellow brown or dark brown, the pigmentation is deepening before the age of 2, and then gradually becomes shallower with age, until it disappears, the pigment change can last for many years, and even disappears until 20 to 30 years old.
(2) Staging: The clinical damage of this disease can be divided into three stages. About 1/3 of the cases have a typical development process. In most cases, the order of the three stages is irregular, which tends to become overlapping. A few have only pigment spots and no stage I, II. change.
Stage I: erythema, papules, blister formation or short-term herpes, usually starting at birth, or within 2 weeks after birth, rarely occurring after 1 year of age.
Phase II: The formation of a wart or mossy rash begins 2 to 6 weeks after birth.
Phase III: Pigmentation period, starting from the 12th to the 26th week.
2. Eye lesions
About 1/3 of the cases have eye abnormalities, such as congenital cataract, optic atrophy, optic discitis, retinal hemorrhage, pigmentation, nystagmus, blue sclera, strabismus, etc.
3. abnormal nervous system
About half of the cases may have varying degrees of neurological abnormalities, including mental retardation, spastic paralysis and epilepsy.
4. Other performance
Delayed teeth, embossed teeth, abnormal formation of permanent and permanent crowns, sparse hair, hair loss on the top of the head, thin nails with vertical and horizontal stripes, etc., in addition to rare sorghum arch, cleft palate and cleft lip, spina bifida, pygmy, microcephaly Wait.
Examine
Examination of pediatric pigmentation disorders
1. Changes in blood picture: In this disease, there is an increase in peripheral blood leukocyte count in the bullous period. About 74.5% of patients have elevated eosinophils, and the highest individual count can account for 65% of the total number of white blood cells.
2. Skin biopsy: The pathological findings of this disease are as follows:
(1) erythema stage: the epidermis is in a sponge state, and the blister under the cornea can be seen. There are a lot of acidic cells in the blister, and the dermis has an inflammatory infiltration around the banded blood vessels;
(2) period of verrucous hyperplasia: thickening of the spinous layer, irregular papillary hyperplasia, hyperkeratotic or keratinized cells, the acanthel cells arranged in a spiral shape;
(3) abnormal pigment phase: there are many phagocytes and vascular hyperemia in the upper part of the dermis, which may be caused by the phagocytosis of melanocytic macrophages under the basement membrane, and the underlying hypopigmentation, cell vacuoles Differentiation and degeneration, but in some cases, a large number of pigments are seen in the basal cells. Conventional X-ray films, abdominal B-ultrasound, EEG examination, abnormal brain waveforms, fundus examination, optic atrophy, retinal hemorrhage, pigmentation and other diseases .
Diagnosis
Diagnosis and diagnosis of pediatric pigmentation disorder
The symptoms can be diagnosed according to the clinical typical skin lesions and its development process, combined with the obvious increase of blood acid granulocytes, and further confirmed by skin tissue biopsy.
Herpes blisters should be distinguished from bullous epidermolysis, childhood pemphigus, and pigmentation should be distinguished from Franceshetti-Jadassohn syndrome, which is reticular pigmentation, no inflammatory changes, and With excessive keratosis and vasodilation, sweating changes, both sexes can occur.
