摘要目的 探讨进行性骨发育异常的临床病理特征、诊断及治疗.方法 分析3例进行性骨发育异常患儿的临床病理资料,并复习相关文献.结果 3例患儿均为女性,出生后数天至数月发病,临床表现为头皮、躯干、四肢质硬的淡红色或肤色丘疹、结节或斑块,无明显症状.组织病理学检查均显示真皮中深层成片的骨或骨样组织形成.3例患儿血清钙、磷及甲状旁腺激素水平均未见明显异常.例1口服碳酸氢钠片并切除右下腹皮疹,随访约7个月右下腹皮疹无复发,但其他皮疹较前凸出、增大、变硬,并出现新发皮疹;例2外用阿达帕林凝胶,皮疹未增多,但皮损增大,质地变硬;例3未治疗,已失访.结论 进行性骨发育异常临床表现为向深部进行性发展的质硬的斑丘疹、斑块,目前尚无有效方案预防或治疗.

abstractsObjective To investigate clinicopathological features,diagnosis and treatment of progressive osseous heteroplasia (POH).Methods Clinicopathological data were collected from 3 cases of POH,and analyzed retrospectively.Related literature was also reviewed.Results All the 3 patients were female,and developed POH within a few days to months after birth.POH clinically manifested as light pink or skin-colored indurated papules,nodules or plaques scattered over the scalp,trunk and extremities without subjective symptoms.Histopathological examination showed that there were flaky bone or bone-like tissues in the middle and lower dermis.Serum levels of calcium,phosphate and parathyroid hormone were normal in the 3 children.Case 1 was treated with oral sodium bicarbonate tablets and surgical resection of skin lesions on the right lower abdomen.During the follow-up for about 7 months,the skin lesions on the right lower abdomen did not recur,while other skin lesions became more bulging,larger and harder,and new skin lesions occurred.Case 2 was treated with topical adapalene gel,and these skin lesions did not increase in number,but became larger and harder.Case 3 received no treatment,and was lost to follow-up.Conclusion POH clinically manifests as indurated maculopapules and plaques progressively affecting deeper skin tissues,and there are no effective therapies or prevention approaches at present.