Recent reviews addressing BHD and skin manifestations

Del Rosso et al. (2016) report a case of BHD that was initially misdiagnosed as acne vulgaris. The patient declared having face acne for 20 years and had in her medical and family history pneumothorax and kidney neoplasms. Biopsies of indurated papules present on the patient’s face demonstrated fibrofolliculoma. Inquiry into further family history revealed that a relative with kidney malignancy had a FLCN mutation which led to the diagnosis of BHD. The authors summarize syndromes associated with facial papules that may simulate acne and alert to the importance of considering other conditions in the presence of facial papular lesions.

Amim et al. (2016) review the skin lesions manifested in Birt-Hogg-Dubé (BHD) and Von Hippel-Lindau (VHL) syndromes associated with an increased risk of renal cell carcinoma (RCC). Authors discuss the importance of early recognition of these lesions given that they may be the first presenting sign for RCC. In addition, therapeutic options for the treatment of advanced RCC and their dermatologic toxicities are briefly reviewed.

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