Enteropathic acrodermatitis
From diseases associated with defects in the transport of minerals, it is necessary to distinguish enteropathic acrodermatitis, manifested by skin lesions, diarrhea and sometimes the appearance of fat in feces, as well as alopecia. Skin lesion in this pathology often has the nature of acute dermatitis, usually limited by limbs and areas around the external openings( mouth, anus, opening of the urethra).This unusual combination of clinical signs is based on the inadequacy of zinc due to impaired absorption.
Enteropathic acrodermatitis is inherited by autosomal recessive type. Sex ratio is approximately 1: 1, cases of blood relationship of parents are noted.
Clinical symptoms usually appear at an early age, but not before the end of breastfeeding. Female milk effectively eliminates the already developed signs of the disease in the child. In the absence of treatment, the disease takes on a progressive course, the child poorly adds to the weight, there is an increased tendency to fungal and bacterial infections, delayed sexual development, low growth, excitability and anxiety, followed by depression, photophobia and other eye disorders. The concentration of zinc in the serum of such children is sharply reduced, there is no increased excretion from the body. The reason for the lack of zinc is not yet clear. A study of the intestines of patients with enteropathic acrodermatitis revealed abnormalities that disappear after treatment with zinc. At the same time, simultaneous cessation of diarrhea and disappearance of cutaneous manifestations are noted.
Breast milk contains a substance that binds zinc. This substance is not found in cow's milk. This difference can explain the appearance of clinical symptoms after weaning from a child who does not have his own zinc-binding substance. The function of the latter in humans is unclear: whether it enhances absorption, transports zinc through the intestinal wall to the development of specific mechanisms or protects zinc from other components of the food.
Treatment of enteropathic acrodermatitis is reduced to the appointment of zinc preparations against the background of a diet with an increased content of this trace element, which makes the forecast relatively favorable, contributes to mitigating the main clinical manifestations of the disease and reaching the majority of children of adulthood.
Primary magnesium deficiency in the blood( hypomagnesia) is a genetically determined pathology with an autosomal recessive type of inheritance. In addition, the inheritance of this disease linked to the X chromosome is not ruled out.
The disease manifests itself in early childhood with seizures and( or) recurrent muscle spasms due to lack of calcium and magnesium in the blood. Numerous studies have found that magnesium deficiency is associated with a primary impairment of its absorption in the small intestine. The remaining functions of the intestine with this disease are not changed. Pathology first appears in a child at the age of several weeks and is characterized by generalized seizures and a decrease in muscle tone. Some children show a reduced protein content in the blood and peripheral edema due to concomitant protein-losing bowel pathology. Symptoms of the disease disappear after the introduction of large doses of magnesium, which should be continued indefinitely.
Menkes disease( curly hair syndrome) is inherited by a recessive type. The disease develops as a result of a violation of absorption of copper in the intestine, which results in a pronounced deficiency of this metal in the body. The absorption of copper by the cells of the intestinal mucosa is not violated, therefore, the defect refers to the transport systems of copper in the body. Pathological changes in this disease are noted in the X chromosome.
As with many diseases that occur during the newborn period, the early symptoms of Menkes' disease are relatively non-specific. Sick children - these are usually premature boys, slowly and sluggishly sucking their mother's breasts, suffering from changes in body temperature. After about a month, drowsiness increases, feeding becomes even more difficult, convulsions develop against a background of decreased or increased muscle tone. Then, neurologic disorders progress, convulsions become frequent, pneumonia and sepsis are often observed. Such children are characterized by certain features of the face: bloated cheeks, upper lip in the form of cupid onions and bent at an angle of the eyebrows. Characteristic changes in hair, which give the name to this disorder, include a "faded" color, brittleness, leading to the formation of bristles that imitate curly or steel hair( the hair is twisted around its axis).To make the correct diagnosis, it is necessary to determine the levels of copper and ceruloplasmin in the serum even in the absence of typical hair changes. Intravenous administration of copper in Menkes disease eliminates its deficiency under the condition of early treatment, in late terms, therapy is usually unsuccessful.