New Japanese case study and clinical features of Japanese studies

Tanegashima et al., 2016 report the case of a 54-year-old Japanese man presenting with skin-coloured papules on his face and neck. Pathological examination revealed the presence of fibrofolliculoma. The patient’s sister was previously diagnosed with BHD Syndrome with multiple pulmonary cysts and renal cell carcinomas but no skin symptoms. CT exams revealed the presence of multiple pulmonary cysts and a renal tumor diagnosed as a chromophobe renal cell carcinoma on the male patient. Genetic analysis revealed a germ line mutation of FLCN in exon 11 (c.1285dupC), the same as his sister. He was diagnosed with BHD with all three symptoms. It is possible that the frequency of each clinical BHD symptom differs with race and gender. The authors analyzed the symptoms of 68 Japanese BHD cases from the available publications from 1990 to 2015. Pulmonary cysts and renal cell carcinomas were found in 82.4% and 29.4% of Japanese patients, and their prevalence was similar to that in Caucasians. However, significantly fewer skin lesions were found in Japanese than in Caucasians (43.1% vs 90.0%). In addition, Japanese men had a significantly higher prevalence of skin lesions than women (66.7% vs 31.3%).

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