photosensitive skin damage
Introduction
Introduction Photosensitive skin damage is one of the clinical manifestations of hematoporphyria, and other manifestations include abdominal pain and neuropsychiatric symptoms. Hematoporosis (hematoporphyria), formerly known as purple disease, is a rare disease, mostly caused by genetic defects caused by the lack of enzymes involved in the heme synthesis pathway leading to porphyrin metabolism disorders. Porphyrin precursors may be the material basis for abdominal and neuropsychiatric symptoms. The sympathetic nervous system plays a role in the pathogenesis of abdominal pain and increased blood pressure. According to the site of porphyrin metabolism disorder, it is divided into erythropoietic hematoporphyria and hepatic porphyria.
Cause
Cause
Clinical manifestations of hematoporphyria include abdominal pain, neuropsychiatric symptoms, and photoreceptive skin damage. Hematoporosis (hematoporphyria), formerly known as purple disease, is a rare disease, mostly caused by genetic defects caused by the lack of enzymes involved in the heme synthesis pathway leading to porphyrin metabolism disorders. Porphyrin precursors may be the material basis for abdominal and neuropsychiatric symptoms. The sympathetic nervous system plays a role in the pathogenesis of abdominal pain and increased blood pressure. According to the site of porphyrin metabolism disorder, it is divided into erythropoietic hematoporphyria and hepatic porphyria.
Examine
an examination
Related inspection
Physical examination of skin diseases Skin color pain urinary porphyrinogen test (UP) Urinary porphyrin
First, clinical manifestations
The patient's main manifestations were intermittent abdominal pain, neuropsychiatric symptoms and tachycardia. Since the porphyrin in the patient does not increase, there is no photoreceptive skin damage.
(1) Skin symptoms:
It can also occur in adults during infancy (late skin porphyria). After exposure to light, erythema, herpes, and even ulceration appear on exposed parts of the skin. Scars are left behind after crusting, causing deformity and pigmentation. The rash can be of the type of eczema, urticaria, summer pruritus or erythema multiforme. The oral mucosa may have red spots and the teeth are brownish red. At the same time, it can be complicated by eye damage such as conjunctivitis, keratitis and iritis. Some patients have skin allergies, inflammation, atrophy, melanin deposition and similar scleroderma or dermatomyositis. In severe cases, there may be crustal deformation of the nose, ears and fingers. Can have a special purple face. Erythropoietic hematoporphyria and delayed skin type may have hirsutism. Hepatic porphyria disease, in addition to skin symptoms, may be accompanied by abdominal or neuropsychiatric symptoms at the same time or in the course of progression, that is, a mixed type.
(2) Abdominal symptoms:
Abdominal pain is the most important and prominent symptom. The paroxysmal cramps are sometimes extremely light, but most of them are more serious and even unbearable. The pain area can be limited, or it can spread to the entire abdomen, or to the back or waist, which can be accompanied by nausea and vomiting. Often intractable constipation. During the examination, most of the abdomen did not have obvious tenderness. Except for a slight flatulence, few positive findings were found. Therefore, many cases have been misdiagnosed as neurosis and snoring. Some patients were misdiagnosed as acute abdomen due to constipation, bloating, vomiting, hypothermia, leukocytosis and increased heart rate.
(3) Neuropsychiatric symptoms:
Symptoms of the nervous system are diverse, such as neuralgia in the extremities, hypoalgesia or numbness, and the disappearance of pain is less common. There may be muscle weakness in the single limb until the limbs are loose, and there may be muscle pain, especially the calf, before or at the same time. Radon reflections often decrease or disappear. Abdominal, intercostal or diaphragmatic weakness can cause respiratory paralysis and life-threatening. There may also be symptoms such as optic atrophy, ophthalmoplegia, facial nerve spasm, difficulty swallowing, and vocal cord paralysis.
Many patients often have nervousness, irritability, excitement, and even hallucinations before an acute attack. Individual patients may be temporarily blind, and in severe cases, convulsions may occur and even coma. EEG can occur in epileptic seizures or changes in electrolyte-like disorders. There may be low fever, sweating, normal or elevated blood pressure, or orthostatic hypotension. The tachycardia occurs every time it occurs, especially when it occurs in neuropsychiatric symptoms, and disappears when it is relieved, so it can be used as an indication of this type of activity.
Second, auxiliary inspection:
The most important basis for diagnosing the disease is the presence of large amounts of ALA and PBG in the urine. The urine color just solved is mostly normal, but if the urine is placed in direct sunlight, the urine gradually turns dark red and even becomes black. This is the result of the conversion of PBG into red urinary porphyrin and bilirubin under the action of light. The resulting urinary porphyrin has a special spectrum that emits red fluorescence under ultraviolet light. If the urine becomes strongly acidic, boil for 30 minutes, and the urine color quickly turns dark red or brownish red.
The disease is relatively rare and easily overlooked. Suffering from unexplained abdominal pain must consider the possibility of acute intermittent porphyria. Unexplained neurological disorders, especially peripheral nerve symptoms, local muscle weakness, loose sputum, etc., neuropsychiatric or psychotic factors are aggravated by taking barbiturate, or with menstrual cramps, or taking female hormones or birth control pills The authors must suspect the possibility of porphyria.
Diagnosis
Differential diagnosis
Differential diagnosis of photoly sensitive skin lesions:
1. Photo-contactdermatitis: It is an inflammatory reaction caused by exposure of sun exposure to local skin after exposure to pathogenic light-sensitive substances.
2, herpes: Chinese medicine called heat sores, is a viral skin disease caused by herpes virus. One refers to the yellow-white or translucent small blisters on the surface of the skin, often appearing in pieces, filled with liquid. The varicella of smallpox has such symptoms; the second refers to a skin disease, the pathogen is a virus, which occurs more often. In the upper lip or face, the symptoms are local itching, then a blister-like bulge, containing a transparent liquid, with slight pain, and a self-healing after a week or two. Divided into genital herpes, herpes simplex, sweat herpes, herpes zoster.
3, eczema (eczema): is a common inflammatory skin disease caused by a variety of internal and external factors in the epidermis and dermis, generally considered to have a certain relationship with allergies. Its clinical manifestations are characterized by symmetry, exudation, pruritus, pleomorphism and recurrence. It is also an allergic inflammatory skin disease characterized by rash diversity, symmetric distribution, repeated itching, and easy to evolve into chronic. Can occur in any part of any age, any season, but often in the winter recurrence or exacerbation of exudation tendency, chronic course, easy to recurrent.
4, Urticaria (Urticaria): commonly known as wind group, rubella group, wind sputum, rubella block (similar to the name of rubella, but not the same disease). It is a common skin disease. Temporary inflammatory hyperemia and massive fluid exudation of the skin and mucous membranes are caused by various factors. Causes local edema damage. It quickly occurs and fades, and itchy. May have fever, abdominal pain, diarrhea or other systemic symptoms. Can be divided into acute urticaria, chronic urticaria, angioedema and papular urticaria.
