Moreira Ana Isabel, Ferreira Graça, Santos Mafalda, Baptista Armando, Ferreira Eduarda Osório
Dermatol Online J. 2010 Sep 15;16(9):14.
Epidermal Nevus Syndrome (ENS) is characterized by epidermal nevi associated with abnormalities involving the nervous, skeletal, and other systems. Rarely, hypophosphatemic rickets has been observed in association with epidermal nevi. A patient with ENS with right-sided serpiginous skin lesions, generalized weakness, and diffuse osteopenia associated with hypophosphatemic rickets is described. Medical management was enough to correct the clinical picture. The pathogenic mechanism involved in the onset of hypophosphatemic rickets in ENS is not fully clarified. Different studies suggest that phosphaturia, caused by circulating factor(s), called "phosphatonin(s)," may be secreted by an epidermal nevus. The nature of the phosphaturic factor(s) is not well understood, but elevated levels of circulating FGF-23 were recently reported in one patient with hypophosphatemic rickets. The authors suggest that serum FGF-23 measurement be included in the workup of this kind of rickets because there is growing evidence that in these situations the epidermal nevi produce a phosphaturic factor.
表皮痣综合征（ENS）的特征是表皮痣伴有神经、骨骼和其他系统的异常。罕见情况下，低磷性佝偻病与表皮痣相关。本文描述了一名患有ENS的患者，其右侧有匐行性皮肤病变、全身无力以及与低磷性佝偻病相关的弥漫性骨质减少。药物治疗足以纠正临床症状。ENS中低磷性佝偻病发病的致病机制尚未完全阐明。不同研究表明，由称为“磷调素”的循环因子引起的磷尿可能由表皮痣分泌。磷尿因子的性质尚不清楚，但最近有报道称，一名低磷性佝偻病患者的循环FGF - 23水平升高。作者建议，在这类佝偻病的检查中应包括血清FGF - 23检测，因为越来越多的证据表明，在这些情况下表皮痣会产生一种磷尿因子。
