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Birt-Hogg-Dube Syndrome Differential Diagnoses

  • Author: Krista K Buckley, DO; Chief Editor: Dirk M Elston, MD  more...
Updated: Oct 22, 2015

Diagnostic Considerations

Differential diagnosis of genetic disorders with multiple firm papules of the face has been categorized according to the origin of the lesions, as follows:

  • Epithelial origin - Trichoepithelioma associated with Brooke-Spiegler syndrome and Rombo syndrome, trichilemmomas associated with Cowden disease, basaloid follicular hamartoma associated with basaloid follicular hamartoma syndrome
  • Mesodermal origin - Angiofibromas of Pringle disease
  • Mixed origin - Fibrofolliculoma

Several authors have reported that Hornstein-Knickenberg syndrome (characterized by multiple perifollicular fibromas) may be the same syndrome as Birt-Hogg-Dubé syndrome. The flesh-colored papules distributed over the head, neck, and upper trunk associated with both syndromes are similar. Both syndromes are autosomal dominant and have been associated with colonic polyposis and neoplasms. Several other authors suggest perifollicular fibromas simply may represent a portion of the spectrum of fibrofolliculomas and trichodiscomas, with the different appearance relating to the plane of section.[63]

Differential Diagnoses

Contributor Information and Disclosures

Krista K Buckley, DO Dermatologist, Annapolis Dermatology Center

Krista K Buckley, DO is a member of the following medical societies: American Academy of Dermatology, Maryland Dermatologic Society

Disclosure: Nothing to disclose.


Jeffrey Meffert, MD Associate Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Michelle Bongiorno Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine

Michelle Bongiorno is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Franklin Flowers, MD Department of Dermatology, Professor Emeritus Affiliate Associate Professor of Pathology, University of Florida College of Medicine

Franklin Flowers, MD is a member of the following medical societies: American College of Mohs Surgery

Disclosure: Nothing to disclose.


Mary Farley, MD Dermatologic Surgeon/Mohs Surgeon, Anne Arundel Surgery Center

Disclosure: Nothing to disclose.

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