rare deseases

Treatment for generalized congenital lipodystrophy, which is a genetic disease that does not allow the accumulation of fat under the skin leading to its accumulation in organs or muscles, aims to reduce symptoms and therefore varies in each case. However, most of the time it is done with: A high-carbohydrate diet such as bread, rice, or potatoes helps maintain energy levels in the body that are reduced due to lack of fat, allowing normal growth and development; Low-fat foods : helps prevent fat build-up in muscles and organs such as the liver or pancreas

Mormo disease, common in animals such as horses, mules and donkeys, can contaminate humans, causing difficulty breathing, chest pain, pneumonia, pleural effusion, and also forming wounds on the skin and mucous membranes. The human being can be infected with B. mallei , which causes the disease, through inhalation or contact with the secretions of a contaminated animal, which may be present in the animal's drinking fountain, harness and tools, for example

The treatment of ectodermal dysplasia is not specific and this disease has no cure, but cosmetic surgeries may be used to resolve some of the malformations caused by the disease. Ectodermal dysplasia is a set of rare hereditary problems that arise in the baby from birth and, depending on their type, cause changes in hair, nails, teeth or sweat glands, for example

Treatment for werewolf syndrome, which is a very rare condition that causes excessive growth of hair from birth, should be done by removing hair to obtain smoother skin where hair growth is normally, especially in women. How to reduce the amount of hair Thus, to reduce hair growth in werewolf syndrome, also known as congenital hypertrophic lanuginosa, treatment is based on hair removal that can be done: With wax: removes the hairs at the root allowing their growth to be slower, however, it is more painful and can not be used on the face and other more sensitive places; With gillette: it does no

Fabry disease is a rare congenital syndrome that causes abnormal accumulation of fat in the blood vessels, causing symptoms such as pain in the hands and feet, changes in the eyes or spots on the skin, for example. Generally, the symptoms of Fabry disease arise during childhood, but in some cases the disease can only be diagnosed during adulthood when it begins to cause changes in the functioning of the kidneys or heart

Pompe disease is a rare neuromuscular disorder of genetic origin that causes muscle weakness and may manifest in the first 12 months of life or later in childhood or adolescence. Although Pompe's disease is always characterized by a muscular impairment that affects the ability to support, cardiac and respiratory functioning, the symptoms vary greatly from patient to patient, especially depending on the stage at which the disease begins to manifest

Treatment for Ogilvie syndrome, which is a serious problem that causes excessive bowel dilation, should be guided by a gastroenterologist and is usually done in hospital admission to make a constant assessment of the patient and avoid the development of serious complications such as perforation of the intestine, for example

Boerhaave syndrome is a rare problem that consists of the spontaneous onset of a ruptured esophagus that causes symptoms such as severe chest pain and a feeling of shortness of breath, for example. Generally, Boerhaave's syndrome is caused by excessive intake of food or alcohol that causes intense vomiting, increasing abdominal pressure and overexercising the esophageal muscles that eventually tear

Schinzel-Giedion syndrome is a rare congenital disease that causes the onset of skeletal malformations, changes in the face, obstruction of the urinary tract and severe developmental delays in the baby. Generally, Schinzel-Giedion Syndrome is not hereditary and, therefore, may occur in families with no history of the disease

CRION is a rare disease that causes inflammation of the nerve of the eyes, causing intense pain in the eyes and loss of vision. Its diagnosis is defined by the ophthalmologist when these symptoms are not accompanied by other diseases, such as sarcoidosis, for example, that may justify degeneration in the optic nerve and loss of vision

Proteus Syndrome is a rare genetic disease that causes the overgrowth of bones, skin and other body tissues, causing the appearance of gigantism of various limbs and organs, especially in the arms, legs, skull and spinal cord. Generally, newborns with Proteus Syndrome do not have symptoms of the disease, and the first signs begin to appear around the 6 to 18 months of age

Dent's disease is a rare genetic problem that affects the kidneys, causing a greater number of proteins and minerals in the urine to be eliminated that can lead to frequent kidney stones or other more serious problems, such as kidney failure. Generally, Dent's disease is more common in men, but it can also occur in women with milder symptoms

There are some signs that may help identify scleroderma, an autoimmune disease characterized by excessive production of collagen. Scleroderma usually affects the skin, but it can also occur in joints, blood vessels, or internal organs, causing specific symptoms of the affected region. The most common symptoms of scleroderma include: Sensitivity of the fingers and toes, as well as of the ears and nose, to cold; Constantly cold fingers and toes; Purple or white skin at the fingertips during the cold, known as Raynaud's Phenomenon; Frequent swelling of hands and feet and shiny-looking skin; Th

Paramyloidosis, also called foot disease, is a rare disease of genetic origin characterized by the production of amyloid fibers by the liver, which are deposited in the tissues, destroying them slowly. This disease is called sickness of the feet because they are in the feet that the symptoms appear for the first time and, little by little, they go up to the thighs and the upper limbs

Aicardi syndrome is a rare genetic disease characterized by the partial or total absence of the corpus callosum, an important part of the brain that connects the two cerebral hemispheres, convulsions and problems in the retina. The cause of Aicardi Syndrome is related to genetic alteration in the X chromosome and, therefore, this disease mainly affects women

Wilson's disease is a rare genetic disease, caused by the body's inability to metabolize copper. This problem causes copper to accumulate in the brain, kidneys, liver and eyes, causing a picture of intoxication in individuals. This disease is hereditary, that is, it passes from parents to children, but it is only generally discovered around the age of 6, when the child begins to present the first symptoms of copper intoxication

Buerger's disease, also known as thromboangiitis obliterans, is an inflammation of the arteries and veins, legs, or arms that causes pain and changes in the temperature of the skin on the hands or feet due to reduced blood flow. Buerger's disease usually occurs in men who smoke between the ages of 20 and 45, because the disease is related to cigarette toxins

Erysipelotricosis is a skin infection caused by the bacterium Erysipelothrix rhusiopatiae, which is a bacterium that grows mainly on dead or decaying matter, it can also infect insects, shellfish, fish, birds and mammals. Contagion usually occurs after an injury during handling, of red meat, poultry, fish, shellfish, bones or shells

Scheuermann's disease is a deformity of the curvature of the spine, which produces an arching of the back. Taking the patient to adopt a folded or crouched posture. It can occur at any age affecting both men and women. Its origin is still unknown, but is very often present associated with different developmental problems or degenerative diseases

Fields syndrome is one of the rarest diseases in the world. It is of genetic origin, which means that the person is already born with it, and it affects the nerves of the body, causing involuntary movements. Because it is a rare disease not much is known about it, as it evolves and a cure has not yet been discovered