Skin Treatment
Diagnosis
Until the Birt-Hogg-Dubé gene was discovered, diagnosis of the syndrome had to be made clinically. Studying a person’s symptoms makes a clinical diagnosis. This means that if someone had sufficient physical signs of BHD, perhaps confirmed by specific test results, it was determined that this person did indeed have BHD. This was an imperfect method of diagnosis for Birt-Hogg-Dubé families.
People who appeared to have fibrofolliculomas but whose skin biopsies were inconclusive were told there was no clinical Birt-Hogg-Dubé diagnosis. Young people who did not show signs of BHD due to their age were told that they had no clinical signs of the syndrome. After the gene test became available, some of these people found out that they did actually have Birt-Hogg-Dubé syndrome. The opposite can be true as well; people who show clinical symptoms of BHD may get negative results from the gene test.
In 2002, the authors of one research article declared that if a person had 10 or more fibrofolliculomas, with at least one confirmed by a biopsy, then that person had BHD. At the time this was the best option for a diagnosis, but that is no longer true. With the arrival of the gene test, it is now possible to find out for sure if the correct diagnosis is BHD.
Visiting a dermatologist is often the first step towards getting a BHD diagnosis. Your dermatologist may also be able to help you determine if there is anything you can do about removing the skin symptoms you have. Discuss the specifics of any treatment with a professional. The appearance of the fibrofolliculomas and other skin lesions do bother many of those affected by BHD.
Treatment
What we know today about Birt-Hogg-Dubé patients treating or removing their skin lesions is not too encouraging; there does not appear to be a definitive treatment that works permanently. The lesions can apparently be removed temporarily. If you only have a few skin lesions, you may be able to have them removed successfully and repeatedly without noticeable scarring. If you have a larger number of lesions, this may be more difficult. You may want to start by treating a small area to see what results you get.
The skin lesions associated with BHD are considered benign. Removing them is a cosmetic procedure and will in most cases not be covered by insurance.
Your dermatologist may suggest one of several treatments that are currently used in conventional dermatology. None have been designed for the treatment of the Birt-Hogg-Dubé skin lesions. You can ask your doctor about Acrochordon Treatment, Cautery and Cold Cautery, Curettage and Hyfrecation, Shave Excision, Radiofrequency, Cryoablation, Laser , and Microdermabrasion.
These are techniques that are used to remove skin lesions in the general population. When you consult with a dermatologist to see if any of them would be appropriate for you, make sure that you discuss the specifics of your situation. If your dermatologist has read an article about successful removal of Birt-Hogg-Dubé skin lesions, ask how long the results lasted and if this was reported in the article. If the article does not specify how the patient looked after a year or two (preferably after five years!) you cannot know how permanent the ‘successful’ treatment was.
Since the treatment of Acrochordons may differ slightly from that for the other skin lesions associated with BHD , this will be discussed in a section separate from the others.
Treatment for Acrochordons
In most cases, you do not need to remove acrochordons. Many people prefer to have them removed because of their appearance. They can ‘catch’ in clothing or zippers. If you wear necklaces, they can also catch on the chain.
Curettage and cautery
A dermatologist can cut acrochordons off or scrape them off with a sharp instrument . You may be given a little topical anesthetic, depending on the size of the skin tag. Afterwards the wound can be cauterized with a hot wire, or frozen to stop the bleeding.
For a small achrochordons, the dermatologist can make a quick snip to cut off the tag; this is not particularly painful. You may or may not need cauterization, and may or may not be given a small band-aid to cover the cut. There may be some scarring.
Skin tags will continue to grow to a certain degree, and if they are larger when they are removed, you may need more anesthetic and they may have to be cauterized. Alternatively, they can also be removed by cryotherapy (freezing) or by laser.
A follow-up visit to the dermatologist is not normally necessary.
Once the skin tags are removed, you may have to repeat the procedure, because they can grow again over time.
If you have something you believe it a skin tag and it seems to be changing in appearance, consult a dermatologist.
Treatment for other skin lesions
Surgical
Removing a few BHD skin lesions by surgery (cutting below the surface of the skin to remove the lesion) has provided some people with a satisfactory solution, although there can be scarring. However, there is no guarantee that this solution is permanent. Consultation with an expert dermatologist is highly recommended. Some people have consulted plastic surgeons; it would be wise to make sure the doctor is aware of the nature of the skin bumps associated with the Birt-Hogg-Dubé syndrome.
Cautery and cold cautery – electrosurgery
Skin cautery uses a heated electrode . It destroys skin tissue through heat and can cause scarring.
Cold cautery is a radiofrequency procedure. A local anesthetic is used. You could say it ‘zaps’ the skin lesion. It would be wise to discuss with your dermatologist the size of the lesion you wish to have treated, and how effective this treatment could be on multiple lesions. This procedure minimizes bleeding.
Curettage and Hyfrecation
There is an article in Dermatologic Surgery of October, 2007, in which two dermatologists from the United Kingdom describe a case in which they treated facial fibrofolliculomas with a relatively simple Curettage and Hyfrefaction procedure. The skin lesions were removed with a curette ( a sharp surgical instrument that is spoon shaped) and then treated with a hyfrecator.
Unlike some other reporters of ‘successful’ treatment for BHD skin lesions, these dermatologists report a 3 year follow up period for this patient during which the lesions on the cheeks did not grow back, and the recurrence on the nose was insignificant. Before and after photos of the person in question do show less of an obvious skin condition.
Shave excision
This technology describes a process in which a skin lesion is literally shaved off, step by step. It can be combined with electrosurgery techniques to minimize scarring, but it may not be appropriate for the skin lesions associated with Birt-Hogg-Dubé syndrome.
Radiofrequency
Electrocautery / fulguration/ electrodessication and electrosection are terms that can be related to Radiofrequency treatment in dermatology. (Other equipment may be used for some of these procedures as well) . Radiofrequency ablation equipment can perform these procedures on the skin’s surface. During the radiofrequency process, specifically targeted tissue is destroyed with an instrument that uses an electrode to treat the surface of the skin. Different kinds of radio waves can be used, which means that there is greater control in ‘aiming’ at the areas being treated than there was with older forms of treatment. It’s possible to be very precise. Radiofrequency is also often used for skin resurfacing or skin tightening in cosmetic procedures.
Cryoablation
Cryoablation is a freezing technique used to treat surface skin lesions. The treatment can be precisely applied and leaves less scarring than traditional surgery. The cold deadens tiny nerve endings so there may be less pain as well.
Both Radiofrequency Ablation and Cryoablation have been used successfully in treating kidney tumors (Kidney Treatment page) the process is similar but when treating the skin, the tip of the device remains on the surface of the area being treated.
Laser
Several kinds of laser treatments have been used on skin lesions. In the 1990’s, copper vapor laser was used to treat fibrofolliculomas on individuals with the Birt-Hogg-Dubé syndrome in France. Carbon dioxide (CO2) laser treatments are described as ‘successful’ in several journal articles. However, there does not appear to be long-term follow up of the people in these articles so it is currently not known how long these ‘successful’ treatments may have lasted. Erbium supposedly produces a beam that is better absorbed in the skin than that of CO2 lasers, so theoretically it would be easier to target specific lesions without harming surrounding skin using Erbium: YAG laser technology. You may find that different dermatologists have their own preference as to laser types..
Hyfrecation
A hyfrecator is an instrument that passes an electrical current through a probe which in this cases touches the skin. It is a coagulator and helps in preventing bleeding. It can be used for Electrocautery as well as in skin lesion treatment/removal.
Microdermabrasion
Microdermabrasion may be a non-surgical option for some skin lesions. The process resurfaces the top layer of the skin. Basically, an abrasive treatment exfoliates the outer layers of the skin. The skin that is treated looks pinkish, and the BHD appearance of the skin lesions may appear to lessen, or to look less protuberant. There are several microdermabrasion kits on the market for home treatment. There is no evidence in the medical journals to suggest that these are or have been successful in removing BHD skin lesions. A microdermabrasion process done by a professional is normally completed over several sessions. It is not a permanent solution. Some disclaimers for microdermabrasion processes say that it works best on unblemished skin, so the result for someone with skin lesions caused by the Birt-Hogg-Dubé syndrome may not be the one that was desired.
Have you had these treatments and can you offer any advice on them, or would you like to know more? Why not post your advice or questions on our forum?
Sources
Birt-Hogg-Dubé syndrome: treatment of cutaneous manifestations with laser skin resurfacing.
Jacob CI, Dover JS.
Arch Dermatol. 2001 Jan;137(1):98-9.
Birt-Hogg-Dubé Syndrome
Michael Jude Welsch, MD, Aleksandar Krunic, MD, and Maria M. Medenica, MD
International Journal of Dermatology
Volume 44 Issue 8 Page 668 – August 2005
doi:10.1111/j.1365-4632.2004.02095.x
Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubé.
Scalvenzi M, Argenziano G, Sammarco E, Delfino M.
J Eur Acad Dermatol Venereol. 1998 Jul;11(1):45-7.
Zbar B, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev 2002; 11: 393.
U.S. Provisional Application No. 60/689,749 filed 09 Jun 2005 (HHS Reference No. E-139-2005/0-US-01) Inventors: Laura S. Schmidt et al. (NCI)
Birt-Hogg-Dube´ syndrome: A review of the literature
and the differential diagnosis of firm facial papules
Analisa Vincent, BS,a LTC Mary Farley, MC, USA,b Edward Chan, MD,a and
William D. James, MDa
Philadelphia, Pennsylvania, and Fort Sam Houston, Texas
(J Am Acad Dermatol 2003;49:698-705.)
Letter: Hyfrecation and Curettage as a Treatment for Fibrofolliculomas in Birt–Hogg–Dubé Syndrome PAUL B. J. FARRANT, MRCP AND RUSSELL EMERSON, MRCP Dermatologic Surgery, Volume 33, Issue 10, Page 1287-1288, Oct 2007, doi: 10.1111/j.1524-4725.2007.33270.x
Radiofrequency ablation in dermatology Sachdeva Silonie, Dogra Alka Department of Dermatology, Venerology and Leprology, Dayanand Medical College and Hospital, Ludhiana, Punjab – 141 001, India Year : 2007 | Volume : 52 | Issue : 3 | Page : 134-137
Birt-Hogg-Dubé Syndrome
Author: Krista Kupres, DO, Staff Physician, Department of Medical Education, San Antonio Uniformed Services Education Consortium