Birt-Hogg-Dubé syndrome is a genodermatosis, or more plainly, an inherited genetic skin condition.

The number of different skin lesions you may read about can be very confusing since many of the descriptions sound similar. It is difficult to figure out which kind of skin lesion you have without consulting a dermatologist. Not all those affected by BHD will be affected by skin symptoms, although the absence of skin findings is not the norm.

Skin lesions associated with BHD include Trichodiscomas and Fibrofolliculomas. Some research indicates that Trichodiscomas and Fibrofolliculomas – may actually all be related and may be types of Fibrofolliculomas.

BHD skin lesions may be also be reffered to as:

• neoplasms (abnormal tissue masses or tumors);
• hamartomas (abnormal formations in tissues including the skin);
• skin nodules (skin bumps) or;
• papules (a lesion- like bump).

These lesions start to develop in early adulthood. Some report growth in the twenties, but when people affected by BHD reach their thirties, they are more likely to see the lesions growing. Anywhere from one to several hundred may appear over a lifetime. The skin condition is permanent; no successful long-term treatment is known.

In a recent examination of 51 families with the Birt-Hogg-Dubé Syndrome, 90% had multiple skin papules with at least one Fibrofolliculoma. The Fibrofolliculoma/s were identified according to biopsy results. Measurements of these papules showed that they were all approximately one to five millimeters in length. 51% of those with BHD in this group had at least one of the other skin symptoms associated with BHD, such as an angiofibroma, trichodiscoma, or perifollicular fibroma. This new research also identifies the first BHD families in which either Angiofibromas or Perifollicular Fibromas, or both, were the only skin symptoms. This means that the Birt-Hogg-Dubé syndrome may be associated with a wider variety of skin conditions than originally thought.

In addition, there is a report of one family with a BHD diagnosis (confirmed by a gene/DNA test) in which no Fibrofolliculomas, Trichodiscomas, or Angiofibromas were found.

If your dermatologist tells you that you have one or more of these skin conditions, this may suggest that you have the Birt-Hogg-Dubé syndrome. However, the only way to know for sure whether or not you have BHD is by having the gene test. It is really important to follow up with the gene test if your dermatologist believes you may have skin lesions that are associated with BHD, because this also puts you at risk for malignant kidney tumors.

Fibrofolliculomas

Appearance

• Fibrofolliculomas are the benign skin papules most often associated with the Birt-Hogg-Dubé Syndrome. See the photos on this page for various samples. They are most commonly found on the neck, upper chest, upper back, and face. Our photos also show some on the ear and earlobe. They are tumors in the hair follicles. People affected by BHD can have anywhere from one to hundreds of these skin lesions. However, recent research has found people with alterations in the BHD gene (FLCN, folliculin) who did not have any fibrofolliculomas.
• Fibrofolliculomas are generally described as being slightly paler than the skin. They are raised, perhaps dome shaped. The lesions may be oval, and the size of a grape seed but they are not all uniform in size. They may look a little like pimples but they do not go away as pimples do. You should not be able to “pop” them like a whitehead pimple could be popped.
• In affected individuals, these skin lesions normally first appear in the second and third decade of life. After they appear, they are basically permanent. Their number often increases with age, and the fibrofolliculomas may grow bigger with age as well.

Although many people try to treat their fibrofolliculomas, no long-lasting method of removing them has yet been found. See the Skin Treatment section for more details.

Trichodiscomas

Appearance

• These are lesions that are the color of skin. Recent research found people whose only skin symptoms were Trichodiscomas; no fibrofolliculomas were found, but Birt-Hogg-Dubé was confirmed by a gene/DNA test.

Other skin conditions associated with BHD

Perifollicular fibromas

• These may be a variant of fibrofolliculomas. They are the color of skin and are usually found on the head or neck.

Angiofibroma

• Angiofibromas are fibrous tissue lesions. They are not just found on the skin, although those associated with the Birt-Hogg-Dubé syndrome seem to be skin related.
• Photo of Angiofibroma
• In one article from 1996, a BHD patient with lipomas and angiolipomas is described. These skin conditions are not the norm for the Birt-Hogg-Dubé syndrome:
  Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dubé syndrome. Chung JY, Ramos-Caro FA, Beers B, Ford MJ, Flowers F. Department of Medicine, University of Florida College of Medicine, Gainesville, USA. Int J Dermatol. 1996 May;35(5):365-7. PMID: 8734663

Other skin conditions that are not associated with BHD

Acrochordons

Some BHD research articles name acrochordons as one of the skin symptoms associated with BHD. As of September 2008, that is no longer considered likely. Many people with BHD do have acrochodons, just as many people in the general population do. A description of acrochordons is included here to help you tell the difference between acrochodons and fibrofolliculomas.

Appearance

• These are commonly known as skin tags, and are also called soft fibromas. When they are very small, they look like a raised bump on the skin, but this changes as they grow. They are called skin tags because these literally hang by skin tissue that is described as a stalk. They may be found on the neck, in the groin, near the armpits , and in the breast area or in areas where there are skin folds . Occasionally they are seen on eyelids. Acrochordons are considered to be benign.

• They are normally the same color as your skin, but they can have also a mottled appearance.

• Acrochordons are not just found on the skin of those affected by the Birt-Hogg-Dubé syndrome. They are fairly common in the general public and may appear with more frequency as people get older.

Basaloid Follicular Hamartoma Syndrome

• Skin condition: Basaloid follicular hamartoma

Brooke-Spiegler Syndrome

• Skin condition: Trichoepithelioma

• Brook-Spiegler skin condition

Cowden Syndrome

• Skin condition: Trichilemmoma

• Cowden Syndrome skin condition

• photo of skin symptoms

Rombo Syndrome

• Skin symptoms

Tuberous Sclerosis

• Skin condition: Angiofibroma, adenoma sebaceum

• Skin symptoms

Drawing of a skin tag

Photo of a skin tag

Sources

Birt-Hogg-Dubé Syndrome. Author: Krista Kupres, DO, Staff Physician, Department of Medical Education, San Antonio Uniformed Services Education Consortium.

Skin tags.

Skin tags.

Neoplasm definition.

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