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Disease characteristics

Excerpted from the GeneReview: Birt-Hogg-Dubé Syndrome
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 have a high risk for spontaneous pneumothorax. Individuals with BHDS have an increased risk of 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 renal hybrids of oncocytoma and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations.

Associated genes

Clinical features

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  • Abnormality of the hair
  • Abnormal retinal pigmentation
  • Renal cyst
  • Abnormality of the skin
  • Multiple lipomas
  • Abnormality of the abdomen
  • Emphysema
  • Spontaneous pneumothorax
  • Renal cell carcinoma
  • Neoplasm of the gastrointestinal tract
  • Renal neoplasm
  • Neoplasm of the thyroid gland
  • Salivary gland neoplasm
  • Neoplasm of the parathyroid gland
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