Pachydermoperiostosis
A 32-year-old man of Han Chinese origin presented with a 15-year history of a peculiar facial appearance (Panel A). After puberty, he had noticed a progressive enlargement of his hands and feet as well as facial furrowing. The patient reported that the progression of disease had stabilized by the time he was 27 years of age. On examination, he had excessive sebaceous secretions and thick, furrowed, and redundant skin on his forehead, cheeks, and chin. Soft-tissue hypertrophy reduced the motion of his hands and feet, with terminal broadening of the fingers (Panel B) and toes and cylindrical enlargement of the limbs. The patient received a clinical diagnosis of pachydermoperiostosis, a rare genetic disease characterized by pachyderma, digital clubbing, and periostosis. His parents and son did not have similar symptoms; no genetic testing was performed. The therapy was performed in two stages. In the first stage, we implanted an expander under the patient's forehead skin to enlarge it and to ensure adequate skin tissues (Panel C). Resection of the furrowed and redundant skin was performed in the second stage (Panel D). Cai-Yue Liu, M.D., Ph.D. Ying-Fan Zhang, M.D., Ph.D. Changzheng Hospital of Second Military Medical University, Shanghai, China source: nejm.org
