Birt-Hogg-Dubé Syndrome

Birt Hogg syndrome

Image from ongoing user study

What is Birt-Hogg-Dubé Syndrome?

The Birt-Hogg-Dubé Syndrome (BHDS) is a very rare genetic disorder caused by mutations in the FLCN gene. These mutations can lead to various health problems, including Skin changes, pulmonary cysts, kidney tumors and other symptoms. BHDS is inherited in an autosomal dominant manner, meaning that a single altered copy of the gene from one parent is enough to cause the condition. The exact effects of BHDS can vary from person to person, but it's important to catch the condition early and get proper medical attention.

Possible symptoms

 Fibrofolliculomas of the face and head

 Unclear renal cysts, renal oncocytomas or renal tumors

Lung cysts or spontaneous pneumothorax

More information about the symptoms

fibrofolliculomas

The characteristic skin changes in this disease are fibrofolliculomas. They appear as multiple, 2 to 5 mm large, whitish-yellowish growths that do not cause itching. The nodules are benign tumors of the hair follicle. They are not cancerous or harmful to your health, but in some people they have a negative impact on self-esteem. Appearance can vary - the tumors can appear as inconspicuous plaques or as larger papules with a horny plug resembling comedones or small epidermoid cysts. Usually, these growths appear mainly on the face, neck, and upper body. The number of tumors and their size increase over time.

renal cysts and renal tumors

Individuals with BHDS are at increased risk of developing multiple kidney tumors, many of which can form metastases. It can occur in up to 34% of those affected renal neoplasia which are usually bilateral or multifocal and represent a significant threat in BHDS. The dominant renal cell tumors are mostly Oncocytomas or renal cell carcinomas (RCC) with chromophobic or a hybrid combination of oncocytic and chromophobic properties.

Lung cysts and pneumothorax

In more than 80% of BHDS patients are pulmonary cysts detectable, which, in contrast to other cystic lung diseases, are usually localized in the lower and paramediastinal region. Pulmonary function is usually unaffected by the (often multiple) cysts. Nevertheless, there is a significantly increased risk for these patients compared to those who are not affected spontaneous, partially recurring pneumothoraces.

heritability

 

The Birt-Hogg-Dubé Syndrome (BHDS) is caused by genetic variants that result in loss of function of the FLCN gene effect, which is also referred to as BHD. Approximately 90% of patients with the BHDS criteria have causative variants in the FLCN gene according to sequence and copy number variation (CNV) analyses. In around 10% of patients, no genetic change in the FLCN gene can be detected.

Birt Hogg Dube Syndrome

Conventional treatment and diagnostic methods

laser treatment

The fibrofolliculomas can be removed dermatologically using laser ablation. A special laser beam is aimed at the affected area of ​​skin in order to destroy the affected cells in a targeted manner.

Possible side effects of laser treatment can include pain, redness, swelling or blistering. In rare cases, changes in pigmentation or scarring can also occur. Before the treatment, the doctor should discuss the individual risks and possible complications with the patient in detail.

However, with this disease there is a high probability of relapses.

Birt Hogg Dubé Syndrome Treatment
Birt Hogg syndrome treatment

Sonography and MRI

Regularly, patients affected by BHDS undergo a range of imaging tests, such as ultrasonography and MRI, to be carefully evaluated for possible kidney tumors. These investigations are of great importance because patients with BDHD have an increased risk of developing kidney tumors. The regular imaging examinations enable the doctors to detect changes in the kidney tissue at an early stage and, if necessary, to take appropriate measures. This proactive approach allows potential problems to be identified and treated early, which can positively impact patient health and well-being.

Important!

To date, there is no causal BHDS therapy. Skin changes are removed for aesthetic reasons. At kidney tumors surgical procedures are the usual choice. If possible, growing kidney tumors (more than 3 cm in diameter) should be removed in a manner that is gentle on the kidneys. Kidney transplantation is discussed in BHDS patients with severe renal impairment. A pair of Pneumothorax should be treated. 

Treatment with phlebolysis

Until now, there have been various conventional treatments, but now the innovative technology of phlebolysis is gaining importance. This method combines electrolysis and radiofrequency to target fibroid folliculomas and cut off their blood supply. This causes the tissue to be denatured and shed, while allowing healthy tissue to grow underneath the fibroid folliculoma.

Phlebolysis is applied using a fine needle that does not heat up and therefore does not cause burns. This needle is used to close the blood vessels in the affected skin area. Fibroma folliculomas usually fall off within about ten days without leaving any scars or side effects.

Patients benefit from gentle removal of fibroma folliculomas without scarring and a quick recovery. Phlebolysis opens up new possibilities for people suffering from troublesome fibroid folliculomas.

It is important that the treatment is always carried out by an experienced doctor. This can offer individual advice and determine the optimal course of action for each patient.

Images from ongoing user study. Single case report of a patient with fibroma folliculomas on both facial cheeks.

Picture 1 from July 08.02.2023th, XNUMX, Picture 2 from July 28.02.2023, XNUMX.

No conclusions can be drawn about the success of other treatments from this individual treatment case.

Benefits of Phlebolysis Treatment:

 

  • No anesthesia necessary

  • No scarring known

  • Gentle and painless method

  • Immediately visible reaction

  • Applicable on any skin

  • No risk of burns as the tool is cold

  • no bleeding

  • No risk of infection

  • The patient is not restricted after the treatment

Video article on the treatment of skin disorders in Birt-Hogg-Dubé syndrome with phlebolysis:

Dr. Wibke Cornelius reports!

Click on the image to access the video on YouTube.

An exciting one Contribution, who researches the background of the Birt-Hogg-Dubé syndrome in detail and presents comprehensive additional information. This video is from the YouTube channel "Myrovlytis Trust".

You can display German subtitles.

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Images from ongoing user study

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