pseudoxanthoma elastica
Introduction
Introduction to elastic pseudo-yellow tumor The pseudo pseudoanxoma (pseudoxanthomaelasticum) was once called diffuse yellow pleat (diffusexanthelasma), and later has atypical yellow tumor. It is called dystrophic fibrosis. Due to different genetic methods, it can be divided into autosomal dominant inheritance. And autosomal recessive inheritance, each type is divided into two groups, clinically more common chromosomes I, II and autosomal recessive group I, and autosomal recessive group II is rare, usually dominant hereditary symptoms More recessive inheritance is serious. basic knowledge Sickness ratio: 0.0001% Susceptible people: good for young women Mode of infection: non-infectious Complications: hypertension, coronary heart disease, angina
Cause
Elastic pseudoxanthoma
(1) Causes of the disease
The disease belongs to the whole body elastic fiber disorder, and the cause is still unknown. Most people think that it is related to congenital factors and has the following views:
1. Family genetics According to the fact that the disease has a family history, it is considered that the disease is related to heredity.
2. Endocrine disorders Thyroid or thymus hypertrophy, ovarian dysfunction, can cause this disease, it is inferred that this disease may be related to endocrine disorders.
3. Metabolic Disorders Some human skin examinations of this disease revealed abnormalities in the formation and metabolism of elastic fibers. It was also found that the collagen content of the skin and the activity of procollagen proline hydroxylase were decreased.
(two) pathogenesis
The pathogenesis is still unclear. Most people think that it is related to congenital factors and has the following views:
1. Family Genetics Touroine collected 238 cases reported in the literature, 114 of which had a family history. Stemmerman mentioned in the report that 5 of Streiff and 9 sisters of the Portman family suffered from this disease. Chromosome recessive inheritance, Pope proposed that its hereditary mode is dominant and recessive. Viljoen et al. believe that PXE is consistent with autosomal recessive inheritance, and its severe visual impairment is not proportional to the degree of skin involvement.
2. Endocrine disorders Due to the clinical manifestations of this disease, there are thyroid or thymus hypertrophy, ovarian dysfunction, it is inferred that this disease may be related to endocrine disorders.
3. Metabolic disorders The disease may be caused by elastic fiber formation and metabolic abnormalities and skin collagen content and procollagen proline hydroxylase activity.
4. Pathological skin histological examination, in the middle and lower layers of the dermis, there are bands of lesions with obvious upper and lower boundaries. Elastic fiber-like material degeneration, fracture and expansion are observed. In addition, Kossa staining with dark brown color can be seen in the same part. Sinking, the same fibrosis is also seen in the vessel wall, the choroidal basal layer, the endocardium and the epicardium, and the vascular pattern is caused by the degeneration of the choroidal basal layer of elastic fiber-like material.
Prevention
Elastic pseudo-yellow tumor prevention
(1) Pre-marital examination: pre-marital examination (ie marriage health care), it is an important link to ensure the happiness of both men and women after marriage, the health of future generations, the focus of pre-marital examination is: 1 investigation of genetic diseases, including detailed inquiry of both men and women and The health status of family members, past medical history and treatment, especially the presence or absence of congenital malformations, genetic history and close relatives marriage history, if necessary, family survey, blood group examination, chromosome examination or genetic diagnosis to detect carriers; 2 comprehensive Physical examination, mainly for acute infectious diseases, tuberculosis, or severe heart, liver, kidney disease, chronic inflammation of the urinary tract, etc., which can seriously threaten the health of the individual or spouse, as well as the serious anemia of the woman, diabetes, etc. can cause damage to the fetus The detection of the affected diseases, and mobilization after the cure can be married; 3 check the male and female reproductive organs, detect sexual organ malformations, gender deformity and other diseases, so as to take measures very early.
(2) Genetic counseling: Genetic counseling is the genetic, genetic, diagnostic, therapeutic, and prognostic issues raised by clinicians from genetic patients and their relatives. The probability that a child's child will suffer from a disease again, and provide advice and guidance for the patient and his relatives to refer to. The significance of genetic counseling is: 1 to alleviate the physical and mental pain of the patient, reduce the psychological pressure of the patient and his relatives, and help They treat genetic diseases correctly, understand the probability of morbidity, take correct prevention and treatment measures; 2 reduce the incidence of genetic diseases in the population, reduce the frequency of harmful genes, and reduce transmission opportunities.
Complication
Elastic pseudotumor complications Complications, hypertension, coronary heart disease, angina
1. Cardiovascular damage can be complicated by peripheral vascular disease, hypertension, coronary heart disease, angina pectoris, but less acute myocardial infarction and sudden death.
2. Eye lesions can be complicated by retinal hemorrhage, hyperplastic changes, pigmentation, reticular macula, choroidal hyaline degeneration, retinal scarring, fundus changes, repeated bleeding in the digestive tract.
3. Cerebrovascular disease can be complicated by neuropsychiatric symptoms, mild hemiplegia, mental abnormalities, subarachnoid hemorrhage, basilar artery insufficiency, epilepsy, etc.
4. Renal vascular involvement can lead to hypertension.
5. The disease can also be complicated by hyperthyroidism, diabetes, Paget disease.
Symptom
Symptoms of elastic pseudo-yellow tumors Common symptoms Upper gastrointestinal bleeding repeated bleeding limbs appear orange... Chromosomal deformity epidermis calcification papules Visual impairment Retinal hemorrhage Penetrating skin degeneration Skin elasticity
The disease occurs in young women, mainly skin damage, cardiovascular damage, digestive tract disease, ocular lesions, neuropsychiatric lesions, kidney disease.
1. Main clinical manifestations
(1) Skin damage: generally occurs in adolescence, but it can also be seen in the short-term after birth, the rash is symmetrical, which occurs on both sides of the neck, umbilical hernia, armpits, armpits and groin, etc. Nasal mucosa, even in the vagina or rectal mucosa, thickening of the skin, poor elasticity, relaxation, rash is large needle to large, yellowish to orange pimples or small nodules, more clusters or fused into a network Some of the pores are enlarged, such as "pilled chicken skin", and the appearance is orange peel. It is also reported that the epidermis is calcified or penetrating skin is degraded. Some patients may have excessive skin stretching, but not necessarily a rash.
(2) Cardiovascular damage: including peripheral vascular disease, hypertension, coronary heart disease and intimal fibrosis and calcification. When the limb artery is involved, the pulse may be weakened or disappeared, intermittent claudication, and about 1/3 of cases have angina pectoris However, acute myocardial infarction and sudden death are less. Congestive heart failure may be related to many factors. Vascular lesions and endocardial fibrosis can cause heart failure. Hypertension and coronary heart disease are also important factors in promoting heart failure. .
(3) Gastrointestinal lesions: In children, gastrointestinal bleeding can occur repeatedly. The cause can be digestive ulcer or esophageal hiatal hernia. Gastroscopic examination can find that mucosal changes in the digestive tract are similar to skin changes. In addition, some patients may appear. Gastrointestinal dilation and rectal prolapse.
(4) Ocular lesions: the retinal blood vessels in the fundus are linear, which is a characteristic change of the disease. This change is characterized by a grayish-white line with thicker blood vessels, which is irregularly ring-shaped or radial around the optic disc. Retinal hemorrhage can cause visual impairment. With age, hyperplastic changes, hyperpigmentation, reticular macula, choroidal hyalinosis, and retinal scarring can occur. When the macula is involved, severe vision loss can occur, and the fundus changes most. With skin changes, repeated bleeding in the digestive tract occurs simultaneously.
(5) neuropsychiatric lesions: neuropsychiatric symptoms can be caused by cerebrovascular disease, mild hemiplegia, mental abnormalities, subarachnoid hemorrhage, basilar artery insufficiency, epilepsy, etc.
(6) Renal lesions: lesions can occur in both intrarenal and extrarenal arteries, and renal vascular involvement can lead to hypertension.
The disease can be combined with hyperthyroidism, diabetes, and Paget disease. Some people think that this disease has a certain relationship with the horse syndrome, Ai-Dang syndrome.
2. According to hereditary methods, the disease can be divided into 4 types.
(1) Autosomal dominant type I: manifested in the orange-like appearance of the flexor of the extremities, accompanied by severe circulatory disorders such as hypertension, angina pectoris, intermittent claudication, and ocular symptoms.
(2) Autosomal dominant type II: characteristic manifestations of pale yellow papules, high blood pressure, intermittent claudication, eye symptoms, increased skin stretch and high zygomatic arch.
(3) Autosomal recessive type I: characteristic manifestations of rash, increased skin stretch, high blood pressure, eye symptoms such as blue sclera and sorghum arch and multiple joints loose throughout the body, female cases have upper gastrointestinal tract Bleeding.
(4) Autosomal recessive type II has only increased skin stretch without rash and systemic visceral complications.
Examine
Examination of elastic pseudo-xanthoma
1. Blood routine repeated gastrointestinal bleeding can have varying degrees of anemia.
2. Urine routine occasional gross hematuria, some patients may have microscopic hematuria.
3. Biochemical examination combined with hyperthyroidism, elevated thyroid hormone, diabetes, elevated blood glucose.
4, X-ray examination: chest X-ray shows left ventricular hypertrophy, may be associated with aortic calcification, when there is cardiac dysfunction, can be shown as X-ray signs of heart failure, angiography can show limb arterial stenosis or occlusion, high Renal artery stenosis can be found in blood pressure, and coronary angiography shows stenosis.
Diagnosis
Diagnosis and diagnosis of elastic pseudo-xanthoma
According to the site where the skin is more rubbed, there is a pale yellow to orange rash and skin thickening, poor elasticity and relaxation. At the same time, there are characteristic blood vessel line lines in the fundus and visceral embolism symptoms and signs, which can diagnose the disease.
In the differential diagnosis, attention should be paid to the identification of sclerotic atrophic moss, scleroderma, flaccid disorder, etc., and none of the above diseases have skin, fundus and blood vessels at the same time as the disease.
