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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Birt-Hogg-Dubé Syndrome
Michael Jude Welsch1, Aleksandar Krunic, Maria M Medenica
1University of Chicago, Department of Medicine - Section of Dermatology, IL 60637, USA. mjudew@hotmail.com
International Journal of Dermatology
|August 17, 2005
Summary
Birt-Hogg-Dubé Syndrome (BHDS) is a genetic disorder linked to skin lesions, kidney tumors, and lung issues. Early identification of BHDS-related skin findings aids in diagnosing associated internal conditions.
Area of Science:
- Genetics and Dermatology
- Oncology
- Pulmonology
Background:
- Birt-Hogg-Dubé Syndrome (BHDS) is an autosomal dominant disorder.
- Characterized by fibrofolliculomas, trichodiscomas, and acrochordons.
- Recent studies link fibrofolliculoma/trichodiscoma lesions to renal neoplasms and pneumothoraces.
Observation:
- A patient with a history of melanoma presented for routine surveillance.
- Facial fibrofolliculoma/trichodiscoma lesions were identified.
- Diagnostic work-up revealed multinodular goiter, pulmonary cyst, and renal mass.
Findings:
- The patient subsequently developed pneumothorax.
- Histological findings of the skin lesions are distinctive.
- BHDS protein folliculin has been identified.
Implications:
- Early recognition of skin manifestations can facilitate diagnosis of associated conditions.
- Highlights the importance of a comprehensive work-up for patients with suspected BHDS.
- Discusses clinical manifestations, histology, associations, and management of Birt-Hogg-Dubé Syndrome.
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