Keratosis of palms and soles with hyperhidrosis
Introduction
Introduction Kernel and plantar keratosis with hyperhidrosis is one of the symptoms of amino acid metabolism. Amino acid disease, also known as amino aciduria, like other hereditary metabolic diseases, amino acid disease does not affect the fetal growth or birth of the fetus, early signs. Aside from a few cases, amino acid diseases are autosomal recessive. Phenylketonuria, tyrosinemia, and Hartnup disease are three important early childhood amino acid diseases in clinical practice and are typical diseases caused by biochemical defects. There are no effective treatments for this disease, mainly for prevention and symptomatic.
Cause
Cause
(1) Causes of the disease
Except in a few cases, amino acid metabolic diseases are autosomal recessive genetic diseases, and the offspring of close relatives are more common.
(two) pathogenesis
There are two main causes of amino acid metabolic diseases, namely, the lack of certain enzymes and the malabsorption of amino acids. The former is known to be an enzyme or a certain lack or decrease of certain enzyme activity, such as the lack of phenylalanine hydroxylase causing phenylketonuria; the lack or decrease of branched amino acid -ketoacid decarboxylase causes maple Marile syrup urine disease; isovalerate caused by lack of isovaleryl-CoA dehydrogenase; homocysteine caused by cystathionine synthetase deficiency; sperm caused by arginase deficiency Lysemia; high lysineemia caused by lysine ketoglutarate reductase deficiency and the like. The latter is caused by the reverse of amino acid and malabsorption, and is often a barrier to the absorption of certain amino acids by the intestines or other tissues, such as liver-brain-kidney (Lowe) syndrome, Hartnup's disease, and the like.
1. Hereditary tyrosinemia: is autosomal recessive, which encodes a defect in the gene of fumarylacetoacetate hydrolase on chromosome 15, resulting in the accumulation of tyrosine and metabolites.
2. Hartnup disease is a neutral amino acid (such as mono-amino acid, mono-carboxyl amino acid, etc.) transport protein deficiency: the disease-causing gene of this protein is located on chromosome 2, and the female carries the disease-causing gene to the offspring. Due to the transport of tryptophan through the renal tubules, the excretion of these amino acids in urine and feces increases, and there is a large amount of urinary blue in the urine, mainly indoxyl sulfate, especially in eating a large amount. After L-tryptophan food, the urine also contains a large number of abnormal metabolites of non-hydroxylated hydrazine. Loss of a large amount of tryptophan through the urine discharge reduces the synthesis of niacin as a synthetic raw material, resulting in a change in the skin of the pellagra. The pathological basis of the disease has not been determined.
Examine
an examination
Related inspection
Cerebrospinal fluid endothelin thyroxine-binding globulin thyroxine (T4) thyroid iodine test thyroid imaging
Laboratory inspection
The routine hepatic function and blood amino acid content of hematuria have diagnostic significance.
1. The content of blood tyrosine is increased in children with hereditary tyrosinemia, urinary tyrosine is also increased, and amino acids such as blood methionine (methionine) can also be increased.
2. Children with Hartnup disease have increased urinary amino acids, and urinary proline, hydroxyproline and arginine are normal.
Other auxiliary inspection
1. EEG examination.
2. Genetic testing and prenatal diagnosis.
3. X-ray, CT and MRI examinations.
Related inspection
Urine amino acid nitrogen, total hydroxyproline, amino acid, arginine, proline, tyrosine.
Diagnosis
Differential diagnosis
Excessive sweating of hands and feet: hand and foot hyperhidrosis is mainly manifested in the palm of the hand, sweaty on the soles of the feet. Mild patients only show the palms moist, severe palms of the patients can secrete sweat visible to the naked eye. When sweating, the palms are cold, only a few patients When sweating, the fingers can keep warm. Because the skin of the hands is often wet, soaked, the palms of the palms are obvious, often accompanied by dermatitis. In winter, due to wet and cold limbs can cause frostbite, skin ulceration and other symptoms. Patients often from children or teenagers Excessive sweating in the palms and other parts affects daily life and work. Excessive sweating in the hands can easily affect the flexibility of hand operation, interfere with manual operation, patients can avoid interpersonal interactions by avoiding shaking hands with others, and create a state of evasion and anxiety. The survey shows that 50% of patients feel insufficient self-confidence, 38% of patients There is frustration. The patient with a sense of depression also reaches about 20%.
