New case study: A novel skin tumor in BHD Syndrome

Nikolaidou et al. (2016) report the case of a 27-year-old woman presenting recurrent spontaneous pneumothorax and a family history of pneumothorax. BHD diagnosis was confirmed by genetic testing of the FLCN gene. A thorough dermatological exam revealed multiple skin angiomatous lesions with prominent signet ring features. There are no previous reports of cutaneous vascular tumors arising in BHD syndrome and the authors hypothesize that these skin lesions are correlated to the FLCN mutation. The authors mention the importance of the role of dermatologists for early detection of BHD and the need for further investigation on the neoplastic angiogenesis of BHD syndrome.

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