erythropoietic protoporphyria
Introduction
Introduction to erythropoietic protoporphyrin Erythropoietic protoporphyrin disease is caused by the low activity of ferrous chelatase and the increase of protoporphyrin IV level, which is autosomal dominant. Most of the children are sick, summer and heavy winter, which is characterized by pain and burning sensation in the exposed parts after sun exposure, erythema, edema, and wheal. In severe cases, blisters, blood blister, erosion, and scarring may occur. basic knowledge The proportion of illness: 0.002% Susceptible people: good for 3 to 5 years old children Mode of infection: non-infectious Complications: cholecystitis, cholelithiasis
Cause
Etiology of erythropoietic protoporphyrinopathy
Genetics (85%):
The disease belongs to autosomal dominant inheritance, and its genetic gene has a variable penetrance, which is related to inhibition genes and environmental factors.
Environmental factors (15%):
According to the investigation and analysis report, the symptoms of the disease occur in the surrounding environment.
Pathogenesis
Some people found that heme synthase activity was reduced in the culture of patients and their family fibroblasts. Excess protoporphyrin was produced from bone marrow, and recent studies have shown that hepatocytes are also the site of formation. The maximum absorption spectrum of protoporphyrin is 400-410 nm. However, light with a wavelength of 500 to 600 nm also has a slight photosensitivity, so light transmitted through the glass can also cause a rash. The protoporphyrin is discharged from the liver into bile and feces, and is negative in urine.
Prevention
Erythropoiesis protoporphyrinosis prevention
The pathogenic spectrum of the disease is 400-410 nm or higher. Generally, sunscreen can not effectively prevent photo-damage. The recurrence author may have eczema-like or moss-like changes. After disappearing, there is a "worm-like" shallow atrophic scar with pigment. Calm or diminishing.
Complication
Complications of erythropoietic protoporphyrin Complications cholecystitis cholelithiasis
May be associated with cholecystitis and cholelithiasis.
1. Bunion is a cholecystitis caused by bacterial infection or chemical stimulation (change of bile composition), which is a common disease of the gallbladder. In abdominal surgery, the incidence rate is second only to appendicitis. This disease is more common in middle-aged people aged 35-55 years. The incidence of females is more than that of males, especially in obese people.
2. Gallstones In general, when gallstones occur in different parts of the biliary tract, the symptoms are not exactly the same.
Symptom
Symptoms of erythropoietic protoporphyrin disease Common symptoms Itching, bloody, papules, crusting, chills, jaundice, abdominal pain, portal hypertension, nausea
Most patients start from 3 to 5 years old, and there are also cases of puberty, more men than women. The disease is characterized by a strong burning sensation, acupuncture or itching after 5 to 30 minutes after sun exposure. The skin has erythema and high edema. In severe cases, there are papules, blisters, cyanosis and blood blisters, similar to acne blisters, which in turn form erosions, thick black sputum or strange linear scars. The course lasts for several days to several weeks. Related to the degree of sun exposure, often involving the nose, red lips and ear flaps, repeated authors may be eczema-like or moss-like changes, leaving a "worm-like" shallow atrophic scar with regression, with pigmentation or decline, perioral There is a radial atrophy texture called pseudo-cleavage, repeated sun exposure parts such as the back of the hand, the skin of the joint is deepened and waxy thickening, there may be lesions of the nail (toe), the patient generally has no systemic symptoms, a few have chills, fever , nausea and other discomfort, when the original porphyrin formation excessively exceeds the maximum excretion capacity of the liver, the liver is damaged by deposition in the liver, showing liver enlargement, jaundice, abdominal pain and portal hypertension, esophageal variceal bleeding and other symptoms, gallbladder The juice contains a large amount of protoporphyrin, which may be associated with cholecystitis and cholelithiasis.
Examine
Examination of erythropoietic protoporphyrinosis
Plasma, red blood cells, porphyrine protoporphyrin increase, a small number of patients with increased coproporphyrin, normal porphyrin in urine, may have decreased serum iron levels, increased iron binding capacity, decreased hemoglobin and blood cell volume, and may have abnormal liver function, red blood cells A brief (10-15 s) orange-red fluorescence was emitted under an iodine-tungsten quartz lamp.
Histopathology: in the skin at the lesion and exposed parts, there is a large amount of amorphous substance deposition in the dermal wall of the upper dermal layer of the dermis, amylase resistance, PAS staining is strong, the nipple can be widened, and the epidermis is narrow and long. The blood vessel wall is thickened, the endothelial cells are swollen, the luminal occlusion can occur, the epidermis is mostly normal, the bullae are located under the epidermis, the basement membrane band is thickened, the PAS staining is positive, and the direct immunofluorescence examination shows the IgG-based immunoglobulin. The protein is deposited around the blood vessels, and there is also a slight deposition at the junction of the epidermal dermis. The vascular basement membrane is thickened by transmission electron microscopy, and the non-structural substance is deposited in multiple layers. The fine fibrils of medium electron density fill the blood vessel wall and surround the blood vessel.
Diagnosis
Diagnosis and diagnosis of erythropoietic protoporphyrin
The diagnosis of this disease is not difficult, mainly based on the characteristic clinical manifestations and the increase of protoporphyrin.
Erythrocytes have transient fluorescence and can be distinguished from hepatic porphyrins. In addition, attention should be paid to the identification of congenital erythropoietic porphyria, pleomorphic rash, and solar urticaria.
