Birt-Hogg-Dube Syndrome Masked by Neurofibromatosis Type 1: A Co-Occurrence with Overlapping Skin Findings

We describe here in a case in which a man with known Neurofibromatosis 1 (NF1) was found to also have Birt-Hogg-Dube Syndrome (BHDS), due to likely independent mutations both on chromosome 17. A 75 year-old non-smoking man with a history of NF1 presented with chest pain. CT angiogram revealed multiple, medial-basilar pulmonary cysts of varying sizes suspicious for BHDS. This patient had a longstanding history of NF1 with multiple biopsy-confirmed cutaneous neurofibromas on the face and trunk and a family history of NF1. The lung findings in conjunction with biopsy-confirmed fibrofolliculoma and genetic testing confirmed BHDS. Aside from the coincidental intersection of two unique skin genodermatoses in one person, this case illustrates how the presence of one genodermatosis made the other phenotype less recognizable.