New BHD case: nevus comedonicus-like lesion and new mutation in an 8-year-old boy

Sprague et al. (2016) report the case of an 8-year-old boy presenting an unusual asymptomatic lesion on his neck that had been slowly enlarging since birth and resembled a nevus comedonicus. The patient had in his family history fibrofolliculomas in his maternal aunt and BHD syndrome with a known FLCN mutation in his mother with fibrofolliculomas, lung cysts and spontaneous pneumothorax as manifestations. Given the skin lesion and family history, patient was diagnosed with comedonal and cystic fibrofolliculomas. Genetic testing showed a previously unreported heterozygous frameshift mutation in the FLCN gene (c.890_893delAAAG), confirming BHD syndrome. This case highlights a newly described lesion associated with BHD syndrome and reinforces the importance of dermatology in early diagnosis.

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