Birt-Hogg-Dubé Syndrome
Description
Birt-Hogg-Dubé Syndrome (BHD) is a rare, inherited disorder characterized by the development of multiple skin tumors, kidney cysts, and an increased risk of certain cancers. This syndrome is named after the three physicians who first described it in 1977. While BHD is uncommon, understanding its causes, symptoms, and management is crucial for those affected and their families. This article will delve into the various aspects of BHD, providing comprehensive information about its nature, diagnosis, and treatment options.
Genes Involved
BHD is caused by mutations in the FLCN gene. This gene provides instructions for making a protein involved in regulating cell growth and development. When the FLCN gene is mutated, cells grow and develop abnormally, leading to the characteristic symptoms of BHD.
Recognizing the Signs and Symptoms
Birt-Hogg-Dubé Syndrome presents with a distinctive set of symptoms, primarily involving the skin, kidneys, and gastrointestinal tract.
- Skin Tumors (Fibrofolliculomas): These are small, benign, flesh-colored bumps that often appear on the face, chest, and back. They are typically hairless and can be multiple.
- Kidney Cysts: The most serious complication of BHD is the development of multiple cysts in the kidneys. These cysts can grow large and lead to complications like kidney failure.
- Gastrointestinal Polyps: BHD can also cause polyps in the intestines, particularly in the colon. These polyps are usually non-cancerous but can increase the risk of colorectal cancer.
- Other Manifestations: Less common symptoms include lung cysts and an increased risk of certain cancers, including renal cell carcinoma, lung cancer, and colon cancer.
Causes
Birt-Hogg-Dubé Syndrome is an inherited disorder, meaning it is passed down through families. A person with BHD inherits a mutated FLCN gene from one parent. This mutation is then passed on to their children with a 50% chance of inheritance. If a person inherits a mutated FLCN gene, they will develop the syndrome.
Inheritance/recurrence risk
BHD follows an autosomal dominant pattern of inheritance. This means that if one parent carries the mutated gene, each of their children has a 50% chance of inheriting the gene and developing the syndrome. If both parents carry the mutated gene, their children have a higher chance of inheriting it and developing BHD.
