进行性骨发育异常三例分析

Progressive osseous heteroplasia： three case reports

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。

Objective 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.