pellagra-like rash
Introduction
Introduction 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.
Cause
Cause
Neutral amino acid disorders are transported due to intestinal mucosal and tubular epithelial cells.
Examine
an examination
Related inspection
Skin fungal microscopy examination of urinary skin and tissue parasites for pathological examination of lesions
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, the main manifestations are 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 approximately 2/3 of patients. It is characterized by red scaly rash and pigmentation, sometimes with blisters, which are more common in exposed parts of the body such as the head and face, neck, hands, feet, etc., which are aggravated after exposure to sunlight;
2 nervous system damage: mainly manifested as cerebellar ataxia, seen in more than 1/2 patients, multiple intermittent seizures. 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. Electroencephalography can detect non-specific slow waves, and brain MRI can show brain atrophy;
3 Amino aciduria: Almost all patients have significant and severe amino aciduria. 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.
Diagnosis
Differential diagnosis
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, the main manifestations are 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 approximately 2/3 of patients. It is characterized by red scaly rash and pigmentation, sometimes with blisters, which are more common in exposed parts of the body such as the head and face, neck, hands, feet, etc., which are aggravated after exposure to sunlight;
2 nervous system damage: mainly manifested as cerebellar ataxia, seen in more than 1/2 patients, multiple intermittent seizures. 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. Electroencephalography can detect non-specific slow waves, and brain MRI can show brain atrophy;
3 Amino aciduria: Almost all patients have significant and severe amino aciduria. 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.
