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目的:探讨原发性皮肤骨瘤(plate-like osteoma cutis,PLOC)的临床表现、组织病理特点及诊断要点.方法:回顾性分析1例板样PLOC的临床及组织病理资料.患儿男,3岁.出生后3个月发现腹部、肩胛部、下肢皮肤多发性大小不等的板状皮损,质硬如骨.没有特殊个人史或家族史,也没有钙磷代谢异常及甲状旁腺激素或甲状腺功能异常.皮损自患儿6个月后至今已3年,病情无进展.结果:皮损组织病理检查示表皮正常,真皮及皮下脂肪组织内局灶性分布板层状骨组织,骨组织中见骨细胞,部分骨小梁周围可见成骨细胞,诊断为皮肤骨瘤.结论:PLOC是罕见的原发性皮肤骨瘤,是非渐进性的异位骨化;其与进行性骨发育异常(progressive osseus heteroplasia,POH)和Albright遗传性骨营养不良(Albright hereditary osteodystrophythe,A HO)均属于GNAS基因相关性骨化障碍性疾病.“,”Objective:To explore the clinical manifestations,pathological features,and key points for the diagnosis of primary osteoma cutis.Methods:A case of plate-like osteoma cutis(PLOC) was retrospectively analyzed.A 3 years old boy had had multiple stone-hard plates on the abdomen,shoulder,lower limbs since 3 months old.Patient had neither family history of similar disorder nor other abnormalities such as alterations in calcium-phosphate metabolism,parathyroid hormone levels and thyroid function.Disease was stable since patient was 6 months old.Results:Skin biopsy showed normal epidermis and lamellar bone tissue focally distributed in the dermis and subcutaneous fat tissue.Osteocytes were in bone tissue,and osteoblasts were seen around bone trabeculae.The pathological diagnosis was cutaneous osteoma.Conclusions:Plate-like osteoma cutis is a rare,non-progressive form of heterotopic ossification.PLOC,progressive osseous heteroplasia(POH) and albright hereditary osteodystrophy(AHO) belong to a spectrum of GNAS-associated disorders of cutaneous ossification.The association among the disorders in this group of ossification suggests that we should properly assess,manage and follow-up these diseases in order to make a correct diagnosis and treatment.