Identification if a New FLCN Variant in a Patient with Suspected Birt-Hogg-Dubé Syndrome Presented with Cutaneous Late-Onset Angiofibroma
Keywords:
Birt-Hogg-Dubé Syndrome, Missense Mutation, Angiofibroma, FLCN geneAbstract
A 63-year-old female presented with a 40-year history of multiple skin-colored facial papules with previous medical history of two episodes of spontaneous pneumothorax at the age of 28 and 62 years. Multiple cysts in both lungs were detected by high-resolution computed tomography chest. Physical examination revealed multiple skin-colored facial papules on her nose and malar area. Sanger sequencing of FLCN showed a new heterozygous mutation, c.1448T>C, p.Leu483Pro, potentially resulting in abnormally functioning protein. Even in the absence of characteristic skin histology, the diagnosis was made using one major criterion (FLCN germline mutation) and one minor criterion (many lung cysts) in accordance with the European Birt-Hogg-Dubé Syndrome Consortium diagnostic criteria6
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