Birt-Hogg-Dube syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare, complex genetic disorder that affects multiple systems in the body. The condition is characterized by three main clinical findings:

• Non-cancerous skin tumors: Also known as fibrofolliculomas, these are benign growths that typically occur on the face, neck, and upper torso [12][14].
• Lung cysts and/or history of pneumothorax (collapsed lung): People with BHD syndrome may develop air-filled or fluid-filled spaces in their lungs, which can rupture and cause a collapsed lung [3][9].
• Various types of renal tumors: The condition increases the risk of developing benign and malignant kidney tumors [2][4].

BHD syndrome is an autosomal dominant disorder, meaning that half of an affected person's children have a 50% chance of inheriting the mutation. The condition is caused by mutations in the FLCN gene, which encodes a tumor-suppressor protein called folliculin [5][13].

Birt-Hogg-Dubé (BHD) Syndrome Signs and Symptoms

BHD syndrome is a rare genetic disorder characterized by the development of skin papules, kidney cancer, lung cysts, and collapsed lungs. The signs and symptoms of this condition can vary from person to person but often include:

• Benign skin tumors: These are usually located on the face, head, neck, or upper chest [1][4].
• Skin growths: Painless, small, papular skin lesions develop gradually over the scalp, face, neck, chest, and back [7].
• Lung cysts: Cysts that grow in the lungs can cause a collapsed lung, which is a serious condition [3][9].
• Kidney cancer: BHD syndrome increases the risk of developing kidney cancer [2][8].
• Decreased kidney function: Renal tumors can lead to decreased kidney function over time [3].

These symptoms often first arise in young adulthood, typically starting with the development of skin growths on the face and neck [5]. It's essential for individuals with a family history of BHD syndrome or those who experience these symptoms to consult a doctor for proper diagnosis and treatment.

References: [1] - Context result 4 [2] - Context result 3 [3] - Context result 6 [4] - Context result 1 [5] - Context result 8 [7] - Context result 7 [8] - Context result 9

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax. Diagnostic testing for BHD syndrome typically involves molecular genetic testing to detect mutations in the FLCN gene.

• Next-generation sequencing: This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the FLCN gene associated with Birt-Hogg-Dube (BHD) syndrome [2].
• Exome sequencing: If exome sequencing is not diagnostic, further testing may be recommended. More detailed information for clinicians ordering genomic testing can be found here [3].
• Family variant testing: This test is recommended to confirm a clinical diagnosis or family history of Birt-Hogg-Dubé syndrome (BHDS) [5].

It's essential to note that diagnostic errors can occur due to rare sequence variations, and interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation [6]. Additionally, certain other variants may not be detectable due to technical limitations in the presence of pseudogenes and/or repetitive or homologous regions [6].

The prevalence of Birt-Hogg-Dubé syndrome (BHD) is estimated at 1/200,000 but the exact incidence is unknown [8]. A study published in Orphanet Journal of Rare Diseases found that the syndrome was associated with a higher risk of kidney cancer and other complications [9].

References: [2] This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the FLCN gene associated with Birt-Hogg-Dube (BHD) ... [3] If exome sequencing is not diagnostic ... testing click here. More detailed information for clinicians ordering genomic testing can be found here. [5] Recommended test to confirm a clinical diagnosis or family history of Birt-Hogg-Dubé syndrome (BHDS). ||Transport 3 mL whole blood. [6] Diagnostic errors can occur due to rare sequence variations. Interpretation of this test result may be impacted if this patient has had an allogeneic stem cell transplantation. ... Certain other variants due to technical limitations in the presence of pseudogenes and/or repetitive or homologous regions · Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome... [8] A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax. ... The prevalence of Birt-Hogg-Dubé syndrome (BHD) is estimated at 1/200,000 but the exact incidence is unknown. [9] Benusiglio PR, Giraudet L, Deveaux C, et al.: Clinical and molecular features of Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet J Rare Dis 9: 163, 2014. [PUBMED Abstract] Shuch B, Vourganti S, Ricketts CJ, et al.: Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical ...

Current Treatment Options for Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder characterized by the growth of benign skin tumors, lung cysts, and an increased risk of certain types of cancer. While there is no specific medical treatment for the cutaneous lesions of BHD, researchers have been exploring various therapeutic options to manage the symptoms and complications associated with this condition.

• Sirolimus (Rapamycin): Although topical rapamycin has shown promise in treating angiofibromas in tuberous sclerosis complex, a similar study found no evidence that treatment of fibrofolliculomas with topical rapamycin in BHD results in cosmetic improvement [1]. However, sirolimus completed Phase 3 trials for BHD treatment, indicating potential therapeutic benefits [6].
• Current treatments: Current treatments for BHD can only remove fibrofolliculomas temporarily, and there is no permanent solution available. Treatment and care for BHD focus on managing symptoms, preventing complications, and addressing related health issues [9].

Important Considerations

It's essential to note that people with BHD may develop multiple oncocytomas in both kidneys, which don't usually require treatment but can be a concern due to potential complications [8]. Additionally, individuals with BHD are at an increased risk of certain types of cancer, making regular health check-ups and monitoring crucial.

Future Research Directions

Further research is needed to explore more effective therapeutic options for BHD. Understanding the underlying mechanisms of this condition will help scientists develop targeted treatments that can improve the quality of life for those affected by BHD.

References:

[1] No specific medical treatment exists for the cutaneous lesions of Birt-Hogg-Dubé syndrome (BHDS). Topical rapamycin failed to demonstrate cosmetic improvement in a study [2].

[6] Sirolimus completed Phase 3 trials for Birt-Hogg-Dubé syndrome treatment [7].

[8] People with Birt-Hogg-Dubé syndrome may develop multiple oncocytomas in both kidneys. They don't usually require treatment, but because it can lead to complications, monitoring is essential [9].

[9] Treatment and Care for Birt-Hogg-Dube Syndrome (BHD)​​ Current treatments for BHD can only remove fibrofolliculomas temporarily, and there is no permanent solution available [10].

Differential Diagnosis of Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé (BHD) syndrome, a rare genetic disorder, can be challenging to diagnose due to its similarities with other conditions. The differential diagnosis for BHD syndrome includes:

• Hornstein-Knickenberg syndrome: This autosomal dominant condition is