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Items: 4

1.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
2.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
3.

Heart disease

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:. - Control your blood pressure. - Lower your cholesterol. - Don't smoke. - Get enough exercise. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
4.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Finding
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