Birt-Hogg-Dubé syndrome synonyms

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder primarily characterized by skin fibrofolliculomas, pulmonary cysts, and an increased risk of renal tumors. While it is almost universally referred to as Birt-Hogg-Dubé syndrome in modern clinical practice, it may occasionally be found in older or specialized literature under names reflecting its cutaneous or pulmonary clinical features, such as Hornstein-Knickenberg syndrome.

Why does Birt-Hogg-Dubé syndrome have multiple names?

In the medical literature, Birt-Hogg-Dubé syndrome is named after the three physicians—Arthur R. Birt, Georgina M. Hogg, and William J. Dubé—who first described the condition in 1977. Historically, before the genetic cause (the FLCN gene) was identified in 2002, the condition was often categorized based on specific clinical findings. For instance, the skin lesions were sometimes described separately as "fibrofolliculomas," leading to descriptive terminology that is now considered outdated. The consolidation of these findings into the single entity of Birt-Hogg-Dubé syndrome reflects our improved understanding of the underlying genetic pathology.

What are the alternative names and historical labels for Birt-Hogg-Dubé syndrome?

While Birt-Hogg-Dubé syndrome is the internationally accepted term, you may encounter the following variations in older medical records or legacy databases:

• Hornstein-Knickenberg syndrome: Named after researchers who described similar cutaneous findings prior to the full characterization of the syndrome.


• BHD syndrome: The standard abbreviation used in clinical notes and research papers.


• Fibrofolliculomas with trichodiscomas and acrochordons: A descriptive name sometimes used in dermatology literature to describe the cutaneous presentation.


• Familial spontaneous pneumothorax: Sometimes used in thoracic medicine to describe the pulmonary manifestation of the syndrome.

How is Birt-Hogg-Dubé syndrome classified in medical systems?

Standardized medical classification systems are essential for accurate diagnosis and global data sharing. In the 114 members of the Birt-Hogg-Dubé syndrome community on DiseaseMaps.org, these official codes are often used to bridge the gap between patient experience and clinical documentation:

• OMIM (Online Mendelian Inheritance in Man): #135150


• Orphanet: ORPHA1235


• ICD-10-CM: Q82.8 (Other specified congenital malformations of the skin)


• ICD-11: LD28.Y (Other specified genetic skin disorders)

Which name should patients and providers use?

Medical professionals currently prefer the term Birt-Hogg-Dubé syndrome to ensure consistency and facilitate clear communication across specialties, including dermatology, nephrology, and pulmonology. Using the official name is critical when searching for clinical trials or peer-reviewed literature, as using outdated synonyms may lead to incomplete search results. If you are reviewing your medical records and see an older term, it is common practice to ask your physician to update the file to the current nomenclature to align with modern diagnostic standards.

Next steps

• Consult with a genetic counselor to discuss the implications of your FLCN gene mutation status.


• Request that your primary care physician use the standard name Birt-Hogg-Dubé syndrome in all referral letters to specialists.


• Connect with the 114 members of the Birt-Hogg-Dubé syndrome community at DiseaseMaps.org to share resources and experiences.


• Regularly check the NIH GARD website for updates on international nomenclature and clinical guidelines.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

References

• Orphanet: Birt-Hogg-Dubé syndrome (ORPHA1235).


• National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD): Birt-Hogg-Dubé syndrome.


• OMIM (Online Mendelian Inheritance in Man): Birt-Hogg-Dubé syndrome; BHD (Entry #135150).


• The BHD Foundation: Educational resources for patients and families.