calcification of the epidermis
Introduction
Introduction The clinical manifestation of skin damage in elastic pseudo-xanthoma is calcification of the epidermis. Pseudoxanthoma elasticum was once called diffuse xanthelasma in the early stage, and later has atypical yellow tumor, which is called dystrophic elastic fiber disease. Due to different genetic methods, it can be divided into autosomal dominant and autosomal recessive, each type is divided into two groups, clinically more common in chromosomes I, II and autosomal recessive I, and often The chromosomal recessive group II is relatively rare, and usually the dominant hereditary symptoms are more serious than recessive.
Cause
Cause
(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.
1. Family inheritance: 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 the disease, it is inferred that this disease may be related to endocrine disorders.
3. Metabolic disorders: Some people have performed skin histological examination of this disease and found that there are elastic fiber formation and metabolic abnormalities. It has also been found that the skin collagen content of the lesion and the activity of the procollagen proline hydroxylase are decreased.
(two) pathogenesis
The pathogenesis is still unclear. Most people think that it is related to congenital factors.
Examine
an examination
Related inspection
Skin smear microscopy skin microscopy
The disease occurs in young women. There are mainly skin damage, cardiovascular damage, digestive tract lesions, ocular lesions, neuropsychiatric lesions, and renal lesions.
Main clinical manifestations:
(1) Skin damage: generally occurs in adolescence, but can also be seen shortly after birth. The rash is symmetrical, and it occurs in the folds on both sides of the neck, the umbilicus, the armpits, the fossa and the groin. It can also be seen in the oral and nasal mucosa, and can be seen in the vagina or rectal mucosa. Skin thickening, poor elasticity, and relaxation. The rash has a large needle to a large bean, which is a pale yellow to orange pimples or small nodules, which are clustered or fused into a network. A part of the pores are enlarged, such as "pilled chicken skin", and the appearance is orange peel. There have also been reports of calcification of the epidermis or the occurrence of penetrating skin degeneration. 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 arteries are involved, the pulse may be weakened or disappeared, and intermittent claudication may occur. About one-third of cases have angina attacks, but fewer acute myocardial infarctions and sudden deaths occur. Congestive heart failure may be related to a variety of factors, vascular disease and endocardial fibrosis can cause heart failure, hypertension and coronary heart disease are also important factors that promote heart failure.
(3) Digestive tract lesions: In children, gastrointestinal bleeding can occur repeatedly. The cause can be a digestive ulcer or a hiatus hernia. Gastroscopy revealed a change in the mucosal changes in the digestive tract similar to skin changes. In addition, some patients may have gastrointestinal dilatation 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 manifests as a grayish-white line with thicker blood vessels and an irregular annular or radial distribution around the optic disc. Retinal hemorrhage can cause visual impairment. Proliferative changes, pigmentation, reticular macula, choroidal hyalinosis, and retinal scarring can occur with age. When the macula is involved, severe vision loss can occur. Most of the fundus changes occur simultaneously with skin changes and repeated bleeding in the digestive tract.
(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.
Diagnosis
Differential diagnosis
Epidermal keratinization: Keratinization is an important feature of keratinocytes. Starting from the primary cells, the keratinocytes continue to differentiate, move up, go through the spinous layer, the granular layer, and finally become the horn cells to complete the keratinization process.
Skin loss and skin exfoliation: Generally between the 3rd and 7th day after onset, skin debris can occur and the epidermis can be exfoliated, especially in the skin of the palms and soles.
Epidermal full-thickness necrosis and subepidermal bullae: common in toxic necrotic epidermolysis drug eruption, the skin manifests as full-thickness of the epidermis and formation of subepidermal bullae. Clinical manifestations, acute onset, accompanied by high fever, irritability, lethargy, convulsions, coma and other obvious symptoms of systemic poisoning. The skin manifests as full-thickness of the epidermis and formation of subepidermal bullae. At the beginning, it was a large piece of bright red patches, followed by purple-brown. In 1 to 2 days, bullae appeared on the spots and expanded, and the sub-synthesis was several tens of centimeters in size, showing most parallel strips of crepe. The bullae are easily rubbed and there is a large smash, similar to a second degree burn. Nilolsky sign (10), at the same time, mouth, eye, nose, upper respiratory tract, genital area, esophageal mucosa, can be widely affected. A large erosion surface appears after the mucosa falls off. The pain is extreme. The body temperature often lasts at 40 ° C, and does not retreat for 2 to 3 weeks. Heart, kidney, liver, and brain are also often affected. The prognosis is serious, and the mortality rate is 25% to 50%. More often due to secondary infection, liver and kidney dysfunction, water and electrolyte disorders and death.
Thick skin of the whole body: It is one of the clinical manifestations of giant human disease. The giant human disease pituitary gland secretes excessive growth hormone (GH), causing hypertrophy of tissues, bones and internal organs and diseases of endocrine and metabolic disorders. The prevalence of puberty and the closure of the ankle are giant diseases.
