原发性厚皮性骨膜病的遗传学研究进展

Progress in genetic research on pachydermoperiostosis

原发性厚皮性骨膜病是一种较为罕见的遗传疾病，其主要临床表现为杵状指、骨膜增生、回状头皮和皮肤肥厚，有的患者还伴随有肢端骨质溶解症、多汗症等症状。目前已定位的相关基因有HPGD和SLC02A1，其表达产物均参与前列腺素E2的运输和代谢，二者的异常是导致原发性厚皮性骨膜病的主要原因。本文对原发性厚皮性骨膜病的遗传基础及其与临床表型的相关性进行综述，为原发性厚皮性骨膜病的基础研究和临床诊断提供参考。

Pachydermoperlostos^s is a rare genetic ctlsease cnaracterlzea oy ilnger ciuomng, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.