rare deseases

Parry-Romberg syndrome, or just Romberg syndrome, is a rare disease characterized by atrophy of skin, muscle, fat, bone tissue and facial nerves, causing aesthetic deformation. Generally, this disease only reaches one side of the face, but can extend to the rest of the body. This disease has no cure , but taking medicines and surgery helps to control the progression of the disease

Argriria is a rare disease that causes the individual to get blue or grayish skin due to the accumulation of silver salts in the body. In addition to the skin, the conjunctiva of the eyes and internal organs also bluish. Symptoms of Argriria The main symptom of argyria is the bluish coloration of the skin and mucous membranes permanently

Amyloidosis can produce several different signs and symptoms and therefore your treatment should be directed by the doctor, depending on the type of illness that the person has. For the types and symptoms of this disease, see How to identify amyloidosis. The doctor may indicate the use of medicines, radiotherapy, stem cell use, surgery to remove the site affected by amyloid deposits and even a liver, kidney or heart transplant, in certain cases

Symptoms caused by amyloidosis vary depending on the site of the disease, which can cause heart palpitations, difficulty breathing and thickening of the tongue, depending on the type of disease that the person has. Amyloidosis is a rare disease in which small deposits of amyloid proteins occur that are rigid fibers in different organs and tissues of the body preventing their proper functioning

The treatment for nemaline myopathy should be guided by a pediatrician, in the case of the infant and the child, or by an orthopedist, in the case of the adult, being done not to cure the disease, but to relieve and treat the symptoms, improving the quality of life. Normally, treatment is started with physiotherapy sessions to help strengthen muscles that are weakened by performing specific exercises adapted by a physical therapist

The treatment for sacral agenesis, which is a malformation that causes delayed development of nerves in the final part of the spinal cord, is usually initiated during childhood and varies according to the symptoms and malformations presented by the child. Generally, sacral agenesis can be identified soon after birth when the baby has leg changes or absence of the anus, for example, but in other cases it may take a few months or years until the first signs appear, which may include recurrent urinary tract infections, frequent constipation or faecal and urinary incontinence

Treatment for Mallory-Weiss syndrome, which is a problem that causes bleeding from the esophagus after constant vomiting, should be guided by a gastroenterologist and is usually initiated in hospital admission to stop bleeding and stabilize the general condition of the patient . During hospitalization it may be necessary to receive serum directly into the vein or to make blood transfusions to compensate for blood loss and prevent the patient from going into shock

The treatment for osteopetrosis, which is a congenital disease that causes the development of very dense and brittle bones, should be guided by a team of several health professionals, such as a pediatrician, an orthopedist, a hematologist, an endocrinologist and a physiotherapist. example. Generally, the treatment of osteopetrosis varies according to the type of the disease and in the case of children with malignant osteopetrosis, the most effective treatment consists of bone marrow transplantation

Treatment for Zollinger-Ellison syndrome is usually started with the daily intake of medicines to reduce the amount of acid in the stomach, such as Omeprazole, Esomeprazole or Pantoprazole, because tumors in the pancreas, called gastrinomas, stimulate the production of acid, increasing the chances of having a gastric ulcer, for example

The treatment for Beckwith-Wiedemann syndrome, which is a rare congenital disease that causes the overgrowth of some parts of the body or organs, varies according to the changes caused by the disease and therefore treatment is usually staff-led of various health professionals that may include the pediatrician, the cardiologist, the dentist and several surgeons, for example

Treatment of short bowel syndrome is based on adapting nutritional supplements to compensate for the reduced absorption of vitamins and minerals that the missing portion of the intestine causes, so that the patient is not malnourished or dehydrated. Complete recovery for the bowel to properly absorb nutrients again and weight loss to be controlled can take up to 3 years

Treatment for Fournier's syndrome should be started as soon as possible after diagnosis of the disease and is usually done by a urologist, in the case of the man, or a gynecologist, in the case of the woman. Fournier's syndrome is a rare disease, caused by a bacterial infection that causes the death of the tissues of the intima

Fournier's syndrome is a rare disease caused by a bacterial infection that affects the genital region and causes death of the cells, leading to the appearance of gangrene-like symptoms such as: Skin of the inner red region that later evolves to darkened; Intense and constant pain; Fetid smell and swelling of the region; Fever above 38ºC; Excessive tiredness.

Caroli syndrome is a rare hereditary disease that affects the liver, which was named after the French physician Jacques Caroli who discovered it in 1958. It is a disease characterized by dilatation of the channels that carry the bile, generating pain due to inflammation these same channels. It can produce stones and infection, and may be associated with congenital hepatic fibrosis, which is a more severe form of the disease

People who have Elastic Man Syndrome can stretch their skin a lot and also bend their joints beyond their normal capacity, and they can squirm with extreme ease. However, these people have a lot easier to develop health problems like scoliosis, disc hernias and dislocations, which indicates that having this disease may not be as pleasant and has its complications

Obesity that begins even in childhood can be caused by a rare genetic disease called leptin deficiency, a hormone that regulates the feeling of hunger and satiety. With the lack of this hormone, even if the person eats a lot, this information does not reach the brain, and it always remains hungry and so is always eating something, which ultimately favors overweight and obesity

The tree man's disease is epidermodysplasia verruciformis, a disease caused by a type of HPV virus that causes the person to have numerous warts scattered throughout the body, which are so large and misshapen that they make their hands and feet look like logs of trees. Verrucciform epidermodysplasia is rare but it severely affects the skin

Prune Belly Syndrome, also known as Dry Prune Abdomen Syndrome, is a rare and serious condition in which the baby is born with deficiency or even absence of muscles in the wall of the abdomen, leaving like the intestines and bladder only covered by the skin . This disease has a cure when diagnosed early and the child can lead a normal life

Werdnig-Hoffmann syndrome is a degenerative disease that has no cure and therefore its treatment is done to alleviate the symptoms and help the patient to overcome the limitations created by the syndrome, which are related to the lack of strength in the muscles of the whole body. Thus, treatment may vary according to the patient's age, affected muscles and severity of symptoms: Difficulty chewing or swallowing In these cases, it is usually necessary to place a nasogastric tube to the stomach or to have a gastrostomy, which is a tube that goes directly from the skin to the stomach, to allow

Fox-Fordyce disease is an inflammatory disease that results from the obstruction of the sweat glands, leading to the appearance of small yellow balls in the armpit or groin area. The causes of Fox-Fordyce Disease may be emotional factors, hormonal changes, increased production or chemical changes in sweat that can lead to sweating of the sweat glands and onset of inflammation