Ninomiya Soranobu, Hara Takeshi, Tsurumi Hisashi, Kanemura Nobuhiro, Kasahara Senji, Ogawa Yoko, Seishima Mariko, Hirose Yoshinobu, Moriwaki Hisataka
The First Department of Internal Medicine, Gifu University Graduate School of Medicine, Japan.
Intern Med. 2011;50(19):2207-11. doi: 10.2169/internalmedicine.50.5717. Epub 2011 Oct 1.
Pachydermoperiostosis (PDP) is a rare disorder of bone and connective tissue growth. A 21-year-old man was referred to our hospital with anemia. He showed characteristics of PDP. Bone marrow biopsy showed myelofibrosis. Chromosomal abnormalities or JAK2 mutation were not found. Anemia gradually progressed, and he became transfusion-dependent. Oral prednisolone was initiated; it gradually improved his anemia and rendered the patient free of transfusion. However, other clinical symptoms such as clubbed fingers and skin hypertrophy remained unimproved. In this case, the serum concentration of vascular endothelial growth factor and transforming growth factor-β levels were increased. Further investigation will be necessary to establish appropriate treatment strategies for this disease.
厚皮性骨膜病（PDP）是一种罕见的骨骼和结缔组织生长障碍性疾病。一名21岁男性因贫血被转诊至我院。他表现出厚皮性骨膜病的特征。骨髓活检显示骨髓纤维化。未发现染色体异常或JAK2突变。贫血逐渐进展，他开始依赖输血。开始口服泼尼松龙；这逐渐改善了他的贫血状况，使患者不再需要输血。然而，杵状指和皮肤肥厚等其他临床症状仍未改善。在该病例中，血管内皮生长因子的血清浓度和转化生长因子-β水平升高。为该疾病制定适当的治疗策略还需要进一步研究。
