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Birt-Hogg-Dubé syndrome.
André Lencastre1, Pedro Ponte1, Margarida Apetato1
1Centro Hospitalar de Lisboa Central, Hospital de Santo António dos Capuchos, Lisbon, Portugal.
Anais Brasileiros De Dermatologia
|December 19, 2013
Summary
Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder characterized by skin tumors, lung cysts, and kidney cancer risk. Early dermatologist diagnosis is key for patient and family management.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis.
- It is associated with an increased risk of renal cell carcinoma and pulmonary cysts.
- Clinical manifestations include skin tumors, particularly perifollicular fibromas.
Observation:
- A 45-year-old woman presented with facial, cervical, and truncal flesh-colored papules.
- Family history revealed similar skin findings and a brother with recurrent pneumothorax.
- CT scans showed multiple pulmonary cysts.
Findings:
- Skin biopsy confirmed perifollicular fibroma.
- Genetic analysis identified a novel frameshift mutation (c.573delGAinsT) in the folliculin gene.
- The diagnosis of BHDS was confirmed by molecular testing.
Implications:
- Dermatologists play a crucial role in the early diagnosis of BHDS through recognition of characteristic skin findings.
- BHDS diagnosis necessitates comprehensive evaluation for renal and pulmonary involvement.
- Genetic counseling and familial screening are essential for managing BHDS and its associated risks.
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