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Results: 7

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.

Infections

MedGen UID:
833099
Concept ID:
CN228891
Finding
3.

Hemolytic uremic syndrome

A form of thrombotic microangiopathy with renal failure, hemolytic anemia, and severe thrombocytopenia. [from NCI]

MedGen UID:
42403
Concept ID:
C0019061
Disease or Syndrome
4.

Thrombotic microangiopathy

a kind of blood disorder that causes blood clots to form in blood vessels around the body [from CHV]

MedGen UID:
403479
Concept ID:
C2717961
Disease or Syndrome
5.

Thrombocytopenia

A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen. [from NCI]

MedGen UID:
52737
Concept ID:
C0040034
Finding
6.

Signs and Symptoms, Digestive

Digestive system manifestations of diseases of the gastrointestinal system or of other organs. [from MeSH]

MedGen UID:
19975
Concept ID:
C0037089
Sign or Symptom
7.

Hemolytic anemia

A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES). [from MeSH]

MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome

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