Health and Fitness

Fibrous Dysplasia Overview of Fibrous Dysplasia Fibrous dysplasia happens when abnormal fibrous (scar-like) tissue replaces healthy bone. The fibrous tissue weakens the bone over time, which can lead to fractures (breaks) and misshapen bones. Some people with fibrous dysplasia have no symptoms, or only a few symptoms, usually in one bone (monostotic). Other people may have multiple affected bones (polyostotic) and experience more symptoms. The disease may occur alone or as part of a condition known as McCune-Albright syndrome, which affects the bone as well as the skin and endocrine (hormone-producing) tissues. Unfortunately, there is no cure for fibrous dysplasia; however, treatments may help to relieve pain, and supportive measures such as physical therapy may help strengthen muscle and improve range of motion. What Happens in Fibrous Dysplasia? Fibrous dysplasia happens when a gene mutates (changes) while the baby is developing in the womb. The changes in the gene cause bone-forming...

Birt-Hogg-Dube Syndrome (BHDS) Summary Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by genetic changes in the FLCN gene. The condition is inherited in an autosomal dominant fashion. Signs & Symptoms The symptoms of Birt-Hogg-Dubé syndrome vary from person to person. The most common symptoms are multiple, benign skin lesions, lung (pulmonary) cysts, increased risk of repeated collapsed lungs (pneumothorax) and kidney (renal) neoplasia ...

Leukocyte adhesion deficiency (LAD) Disease Overview Leukocyte adhesions deficiency (LAD) syndromes are a group of rare disorders affecting the immune system. LAD syndromes are characterized by defects affecting how white blood cells (leukocytes) respond and travel to the site of a wound or infection. Three distinct types of leukocyte adhesion syndrome have been identified. The specific symptoms and the severity of LAD syndromes vary from one person to another. All affected individuals develop an increased susceptibility to developing recurrent bacterial and fungal infections. Additional symptoms may occur depending upon the specific subtype present. LAD syndromes are caused by mutations of specific genes that contain instructions for creating certain proteins that are necessary for white blood cells to travel from the bloodstream to the site of an infection or inflammation. Individuals with severe forms of LAD may have near complete absence of these proteins. Individuals who have mild...

Tricobezoar OVERVIEW  Trichobezoars form when hair strands, escaping peristaltic propulsion because of their slippery surface, are retained in the folds of the gastric mucosa. As more hair accumulates, peristalsis causes it to be enmeshed into a ball. As this ball gets too large to leave the stomach, gastric atony may result.  SYMPTOMS What are the Symptoms and Signs of Trichobezoars? In many cases, when the mass is small, a trichobezoar may not be identified due to the lack of symptoms. The initial symptoms of trichobezoar may include loss of appetite and nausea. When the trichobezoar is significant in size, it can cause obstructive symptoms. Also, due to the pressure it exerts, it can reduce blood supply to the stomach and intestine resulting in ulcers and perforation of these organs. Jaundice and pancreatitis can occur as complications. Some of the symptoms caused by trichobezoars are as follows: Exhaustion or fatigue Stomach pain Bad breath Vomiting Black tarry stools due ...

Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis) Overview Granulomatosis with polyangiitis is an uncommon disorder that causes inflammation of the blood vessels in your nose, sinuses, throat, lungs and kidneys. Formerly called Wegener's granulomatosis, this condition is one of a group of blood vessel disorders called vasculitis. It slows blood flow to some of your organs. The affected tissues can develop areas of inflammation called granulomas, which can affect how these organs work. Early diagnosis and treatment of granulomatosis with polyangiitis might lead to a full recovery. Without treatment, the condition can be fatal. Symptoms Signs and symptoms of granulomatosis with polyangiitis can develop suddenly or over several months. The first warning signs usually involve your sinuses, throat or lungs. The condition often worsens rapidly, affecting blood vessels and the organs they supply, such as the kidneys. Signs and symptoms of granulomatosis with polyangi...

Bone Tuberculosis What is TB? Tuberculosis (TB) is a disease caused by germs that are spread from person to person through the air. TB usually affects the lungs, but it can also affect other parts of the body, such as the brain, the kidneys, or the spine. A person with TB can die if they do not get treatment. What Are the Symptoms of TB? The general symptoms of TB disease include feelings of sickness or weakness, weight loss, fever, and night sweats. The symptoms of TB disease of the lungs also include coughing, chest pain, and the coughing up of blood. Symptoms of TB disease in other parts of the body depend on the area affected. How is TB Spread? TB germs are put into the air when a person with TB disease of the lungs or throat coughs, sneezes, speaks, or sings. These germs can stay in the air for several hours, depending on the environment. Persons who breathe in the air containing these TB germs can become infected; this is called latent TB infection. What is the Difference Between...

Goodpasture Syndrome OVERVIEW What is Goodpasture syndrome? Goodpasture syndrome (or anti-GBM disease) is a rare, life-threatening autoimmune disease that affects the lungs and the kidneys. It happens when the immune system mistakenly attacks a protein called collagen because it recognizes it as a foreign substance. In Goodpasture syndrome, the body produces proteins (antibodies) that attach to the collagen in certain parts of the lungs and the kidneys. When they attach to the collagen, these antibodies cause severe inflammation and destruction of those tissues. Symptoms of the disease include coughing up blood, difficulty breathing, fatigue and anemia. When the disease affects the kidneys, patients may have blood in the urine, swelling of the legs and high blood pressure. If the kidney disease is very severe, patients may notice that they are passing only small amounts of urine and may have nausea and vomiting as well. Treatments include medications and a procedure called plasmapheres...