Wilson's disease is a rare genetic disease, caused by the body's inability to metabolize copper, causing copper to accumulate in the brain, kidneys, liver and eyes, causing people to become intoxicated. This disease is hereditary, that is, it passes from parents to children, but it is only discovered, in general, between 5 and 6 years of age, when the child begins to show the first symptoms of copper poisoning, such as mental confusion, delusions, changes in behavior and pe
Rare Diseases 2023, March
Kawasaki disease is a rare childhood condition characterized by inflammation of the blood vessel wall leading to blotchy skin, fever, enlarged lymph nodes, and, in some children, heart and joint inflammation. This disease is not contagious and occurs more frequently in children up to 5 years of age, especially in boys.
Urine with a strong fishy smell is usually a sign of fish odor syndrome, also known as trimethylaminuria. This is a rare syndrome that is characterized by a strong, fish-like smell in bodily secretions such as sweat, saliva, urine and vaginal secretions, for example, which can cause a lot of discomfort and embarrassment.
The Black Death, also known as the bubonic plague or simply the Plague, is a serious and often fatal disease caused by the bacterium Yersinia pestis, which is transmitted through fleas from rodent animals to humans. This plague had a very important outbreak in the Middle Ages, causing the death of almost 30% of the population of Europe, however, nowadays it is quite rare, being more frequent in some parts of sub-Saharan Africa and in islands of Madagascar, for example.
Hermaphrodite is a person who is born with two genitals at the same time, both male and female. This situation is known as hermaphroditism or intersexuality, and its causes are still not well established. However, it is possible that hermaphroditism is the result of genetic changes during development in the womb.
The arachnoid cyst is a benign lesion formed by cerebrospinal fluid, which develops between the arachnoid membrane and the brain. In rarer cases it can also form in the spinal cord. These cysts can be primary or congenital when they are formed during the baby's development during pregnancy, or secondary, when they form throughout life due to trauma or infection, being less common.
Fournier syndrome is a disease that affects the scrotum, penis and the region between the anus and penis, known as the perineum, and is characterized by gangrene of this region, which corresponds to the death of cells present in the skin., in fat and other tissues.
Fetal hydrops is a rare disease in which fluid accumulates in various parts of the baby's body during pregnancy, such as the lungs, heart and abdomen. This disease is very serious and difficult to treat and can lead to the death of the baby early in life or to a miscarriage.
Rhabdomyolysis is a serious condition characterized by the destruction of muscle fibers, which leads to the release of components present inside the muscle cells into the bloodstream, such as calcium, sodium and potassium, myoglobin, creatine phosphokinase and the enzyme transaminase pyruvic (TGP).
Dwarfism is a consequence of genetic, hormonal, nutritional and environmental changes that make the body not grow and develop as it should, causing the person to have a maximum height below the average of the population of the same age and sex, which can vary between 1.
Highlander syndrome is a rare disorder characterized by delayed physical development, which makes a person look like a child when, in fact, he is an adult. Thus, the person has growth retardation, absence of body hair and absence of deepening of the voice, for example.
Mitochondrial diseases are genetic and hereditary diseases characterized by the deficiency or decrease in the activity of mitochondria, not having enough energy production in the cell, which can result in cell death and, in the long term, organ failure.
Pigeon breast is the popular name given to a rare malformation, scientifically known as Pectus carinatum, in which the breastbone is more prominent, causing a bulge in the chest. Depending on the degree of change, this bump can be quite noticeable or go unnoticed.
Mastocytosis is a rare disease characterized by the increase and accumulation of mast cells in the skin and other body tissue, leading to the appearance of spots and small reddish-brown dots on the skin that are very itchy, especially when there are changes in temperature.
Liposarcoma is a rare tumor that starts in the fatty tissue of the body, but can easily spread to other soft parts, such as muscles and skin. Because it is very easy to reappear in the same place, even after being removed, or spreading to other places, this type of cancer is considered malignant.
Transverse myelitis, or just myelitis, is an inflammation of the spinal cord that can occur as a result of infections by viruses or bacteria, or be a consequence of autoimmune diseases. The main signs and symptoms of this condition are due to bone marrow involvement and, therefore, the most common include muscle paralysis, back pain, muscle weakness, decreased sensitivity and paralysis of the legs and/or arms.
Idiopathic thrombocytopenic purpura, also called immune, autoimmune or isoimmune thrombocytopenic purpura or simply ITP, is an autoimmune disease in which the body's own antibodies destroy blood platelets, resulting in a marked reduction in this type of cells.
Schwannoma, also known as neurinoma or neurilemoma, is a type of benign tumor that affects Schwann cells, which are located in the peripheral nervous system. The presence of this type of tumor does not normally lead to the appearance of signs or symptoms, however when it compresses a nerve, it can cause symptoms according to its location, such as hearing loss, vertigo, pain when speaking, problems digestive problems and pain and tingling in one of the limbs, for example.
Molar pregnancy, also called spring pregnancy or hydatidiform mole, is a rare condition that occurs during pregnancy due to changes in the uterus, caused by the multiplication of abnormal cells in the placenta. This condition can be partial or complete, depending on the size of the abnormal tissue in the uterus and has no definite cause, but it can occur mainly because of the fertilization of two sperm in the same egg, causing the fetus to have only parent cells.
Ehlers-Danlos syndrome, better known as elastic man disease, is characterized by a group of genetic disorders that affect the connective tissue of the skin, joints and blood vessel walls. Generally, people with this syndrome have joints, blood vessel walls and skin that are more extensible than normal and also more fragile, since it is the connective tissue that has the function of giving them strength and flexibility, and in some cases, severe vascular damage may occur.
Bartter Syndrome is a rare disease that affects the kidneys and causes the loss of potassium, sodium and chlorine in the urine. This disease decreases the concentration of calcium in the blood and increases the production of aldosterone and renin, hormones involved in controlling blood pressure.
Polyglobulia, also called polycythemia or erythrocytosis, is a disease characterized by an excess of red blood cells produced by the bone marrow. This overproduction makes the blood thicker and less able to circulate in the bloodstream and organs, causing symptoms such as headache, dizziness, excessive tiredness, blurred vision, or a burning sensation in the extremities of the body.
Dermomyositis is a rare inflammatory disease that mainly affects muscles and skin, causing muscle weakness and skin lesions. It occurs more frequently in women and is more common in adults, but it can occur in people under 16 years of age, being called infantile dermatomyositis.
Gigantism is a rare disease in which the body produces excess growth hormone, which is usually due to the presence of a benign pituitary tumor, known as a pituitary adenoma, causing organs and body parts to grow. more than usual. When the disease appears from birth, it is known as gigantism, however, if the disease appears in adulthood, usually around age 30 or 50, it is known as acromegaly.
Situs inversus is characterized by an autosomal recessive congenital anomaly, in which the main organs of the thorax and abdomen are located in a mirrored position in relation to the usual topography, and may, in some cases, be accompanied by others defects.
Kartagener syndrome, also known as primary ciliary dyskinesia, is a genetic disease characterized by an alteration in the structural organization of the cilia that line the respiratory tract. Thus, this disease is characterized by three main symptoms:
Berardinelli-Seipe Syndrome, also known as generalized congenital lipodystrophy, is a rare genetic disease that is characterized by the malfunction of the body's fat cells, causing no accumulation of fat in normal places in the body., starting to be stored in other places, such as the liver and muscles.
Crouzon syndrome, also known as craniofacial dysostosis, is a rare disease in which there is premature closure of the skull sutures, which leads to various cranial and facial deformities. These deformities can also generate changes in other body systems, such as vision, hearing or breathing, making it necessary to perform correction surgeries throughout life.
West Syndrome is a rare disease characterized by frequent epileptic seizures, being more common among boys and which begins to manifest during the first year of the baby's life. Usually the first attacks occur between 3 and 5 months of life, although the diagnosis can be made up to 12 months.
Alagille syndrome is a rare genetic disease that severely affects several organs, especially the liver and heart, and can be fatal. This disease is characterized by the insufficiency of bile and hepatic ducts, thus leading to the accumulation of bile in the liver, which prevents it from working normally to eliminate waste from the blood.
Riley-Day Syndrome is a rare hereditary disease that affects the nervous system, impairing the functioning of sensory neurons, responsible for reacting to external stimuli, causing insensitivity in the child, who does not feel pain, pressure, or temperature.
Chimerism is a type of rare genetic alteration in which the presence of two different genetic materials is observed, which may be natural, occurring during pregnancy, for example, or be due to hematopoietic stem cell transplantation, in which the transplanted donor cells are absorbed by the recipient, with the coexistence of cells with different genetic profiles.
Proteus syndrome is a rare genetic disorder characterized by excessive and asymmetrical growth of bones, skin and other tissues, resulting in gigantism of various limbs and organs, mainly arms, legs, skull and spinal cord. Symptoms of Proteus Syndrome usually appear between 6 and 18 months of age and excessive and disproportionate growth tends to stop in adolescence.
Progeria, also known as Hutchinson-Gilford Syndrome, is a rare genetic disorder that is characterized by accelerated aging, about seven times the normal rate, so a 10-year-old, for example, appears to be 70 years old. The child with the syndrome is born apparently normal, just a little smaller for their gestational age, however as it develops, usually after the first year of life, there are some signs that are indicative of premature aging, namely, progeria, such as hair lo
Holt-Oram Syndrome is a rare genetic disease, which causes deformities in the upper limbs, such as hands and shoulder, and heart problems such as arrhythmias or small malformations. This is a disease that often can only be diagnosed after the child is born and that although there is no cure, there are treatments and surgeries that aim to improve the child's quality of life.
Behçet's disease is a rare autoimmune disease characterized by inflammation of different blood vessels, causing the appearance of skin lesions, mouth ulcers and sores in the genital region, in addition to inflammation of the eyes, gastrointestinal tract and joints.
Red man syndrome is a condition that can occur immediately or after a few days of using the antibiotic vancomycin due to a hypersensitivity reaction to this drug. This medication can be used to treat orthopedic conditions, endocarditis and common skin infections but should be used with care to avoid this possible reaction.
Gangliosidosis is a rare genetic disease characterized by a decrease or absence of the activity of the beta-galactosidase enzyme, which is responsible for the degradation of complex molecules, leading to their accumulation in the brain and other organs.
Beckwith Wiedemann syndrome, or BSW, is a rare genetic disease characterized by an alteration in chromosome 11 that leads to abnormal growth of some organs of the body, being mainly noticed the enlargement of the tongue, liver, kidneys, spleen, pancreas and heart, in addition to changes in the abdominal wall.
Reye's syndrome is a rare disease that can be serious and often fatal, as it is characterized by inflammation of the brain and rapid accumulation of fat in the liver. This syndrome occurs mainly in children between 4 and 12 years old, but it can also occur in adults, with a higher risk if there are cases in the family.