pellagra-like rash
Introduction
Introduction to pellagrain-like rash Pella-like rash, also known as Hartnup disease, is a hereditary amino acid metabolic disease, also known as hereditary niacin deficiency, or tryptophan oxygenase deficiency. It was first reported in 1956 by Baron et al. in a family named Hartnup. The disease is due to intestinal mucosal and renal tubular epithelial cells transport neutral amino acid disorders, clinical manifestations of pellagra of rash, nervous system damage and amino acid urine. basic knowledge Probability ratio: the incidence rate is about 3% Susceptible population: no specific disease population Mode of infection: non-infectious Complications: diarrhea
Cause
Pellagrax-like rash
It is a hereditary amino acid metabolic disease, also known as hereditary niacin deficiency, or tryptophan oxygenase deficiency. The disease is due to intestinal mucosal and renal tubular epithelial cells transport neutral amino acid disorders, clinical manifestations of pellagra of rash, nervous system damage and amino acid urine. Neutral amino acid disorders are transported due to intestinal mucosal and tubular epithelial cells.
The disease is an autosomal recessive disease, and the relative marriage rate of the parents is 25% (7 out of 28 families are close relatives). OMIM: 234500. The metabolic defect of this disease lies in the transport dysfunction of various amino acids in renal tubules and intestinal mucosa, including color, C, asparagine, melon, glutamine, group, sputum, smelting, bright, styrene-acrylic, silk, su and Tyrosine, etc., these amino acids are largely excreted from the urine, while the transport functions of other amino acids are normal. Among them, the tryptophan transport disorder is the most critical, leading to the inability of the tryptophan-kynurenine-nicotinamide metabolic pathway to cause nicotinamide deficiency. Reduced tryptophan absorption can also cause a large amount of strontium formation, which can inhibit the synthesis of nicotinamide, thus causing symptoms similar to pellagra and neurological symptoms in patients. The patient's skin and nervous system symptoms are very different between the affected families and siblings. Some patients may not even have the above symptoms. Therefore, there is a major Hartnup gene mutation in Hartnup disease, but many factors can regulate it. Expression and function lead to some patients with morbidity while others appear as normal individuals, but these factors are still unclear. Symula et al (1997) believe that the disease is located at 1lql3 and may be associated with hyperphenylalaninemia.
Prevention
Pellagrass-like rash prevention
Usually pay attention to healthy diet, eat more fruits and vegetables such as vegetables and fruits, avoid alcohol and tobacco, try not to eat spicy food such as pepper, leeks.
Complication
Pellagrass-like rash complications Complications, diarrhea
1 to 2 months before the rash, there are often stomatitis and chronic diarrhea, or long-standing prodromal symptoms such as burning mouth, indigestion, diarrhea or constipation, dizziness, headache, insomnia, memory loss, attention Inconsistency, fatigue, weakness and weight loss. Skin lesions are mostly located at the exposed site and are often symmetrically distributed, such as the back of the hand, the back of the finger, the wrist, the lateral side of the forearm, the face, the neck, the upper chest, the back of the foot, the ankle and the extension of the calf. They can also occur in areas susceptible to friction, such as shoulders. Elbow, knee and hip.
Symptom
Pella-like rash symptoms common symptoms rash cerebellar ataxia amino aciduria
The clinical manifestations of Hartnup's disease vary widely. Many illnesses occur in infants or children, but even in the same family, the length of the patient's disease, the speed of onset, and the severity are very different. Clinically, it is mainly characterized by pellagrax-like rash, nervous system damage and amino acid urinary three typical symptoms: 1 skin damage: manifested as a pellagra-like rash, which occurs in about 2/3 of patients. It is characterized by red scaly rash and pigmentation, sometimes blisters, more common in exposed parts of the body such as the head and face, neck, hands, feet and other skin, after sun exposure; 2 nervous system damage: mainly manifested as cerebellar type Abortion, seen in more than 1/2 patients, multiple intermittent attacks. It can also be accompanied by severe headache, intermittent myalgia and syncope, but they are not too serious. Some patients can develop symptoms such as low intelligence, dementia and mental disorders. EEG examination can find non-specific slow waves, brain MRI can see brain atrophy; 3 amino aciduria: almost all patients have obvious and serious amino acid urine. The emission of neutral amino acids such as urine, color, C, asparagine, melon, glutamine, group, bismuth, iso-bright, bright, styrene-acrylic, silk, sulphate and tyrosine are normal people's 5 ~20 times, all patients have very constant amino acid types in the urine. Some children have persistent diarrhea and stagnant growth and development.
Examine
Examination of pellagrac like rash
Urine routine, blood routine.
Diagnosis
Diagnosis and diagnosis of pellagrain-like rash
Differential diagnosis of pellagragide-like rash:
1, pellagra: niacin deficiency disease. Niacin deficiency is also called nicotinic acid deficiency, also known as pellagra. Clinically, the skin, gastrointestinal tract, and nervous system symptoms are the main manifestations. The occurrence of this disease is related to the intake of niacin, decreased absorption and metabolic disorders, especially in cereals such as corn, and lack of appropriate non-staple foods, and sometimes local disease manifestations. The disease can also have a deficiency of tryptophan and other vitamins. It can also be seen in digestive tract malabsorption and chronic wasting diseases such as carcinoid syndrome.
2, children with papular dermatitis syndrome: the disease was first reported by Gianotti in 1955, Crosti in 1957, so the disease is also known as Gianotti-Crosti syndrome. The main features are erythematous papules, superficial lymphadenopathy, and no jaundice hepatitis. This disease is also known as pediatric itch-free apical dermatitis.
The clinical manifestations of Hartnup's disease vary widely. Many illnesses occur in infants or children, but even in the same family, the length of the patient's disease, the speed of onset, and the severity are very different. Clinically, it is mainly characterized by pellagrax-like rash, nervous system damage and amino acid urinary three typical symptoms: 1 skin damage: manifested as a pellagra-like rash, which occurs in about 2/3 of patients. It is characterized by red scaly rash and pigmentation, sometimes blisters, more common in exposed parts of the body such as the head and face, neck, hands, feet and other skin, after sun exposure; 2 nervous system damage: mainly manifested as cerebellar type Abortion, seen in more than 1/2 patients, multiple intermittent attacks. It can also be accompanied by severe headache, intermittent myalgia and syncope, but they are not too serious. Some patients can develop symptoms such as low intelligence, dementia and mental disorders. EEG examination can find non-specific slow waves, brain MRI can see brain atrophy; 3 amino aciduria: almost all patients have obvious and serious amino acid urine. The emission of neutral amino acids such as urine, color, C, asparagine, melon, glutamine, group, bismuth, iso-bright, bright, styrene-acrylic, silk, sulphate and tyrosine are normal people's 5 ~20 times, all patients have very constant amino acid types in the urine. Some children have persistent diarrhea and stagnant growth and development.
