Heike Carrie L, Cunningham Michael L, Steiner Robert D, Wenkert Deborah, Hornung Robin L, Gruss Joseph S, Gannon Francis H, McAlister William H, Mumm Steven, Whyte Michael P
Department of Pediatrics, Children's Craniofacial Center, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105-5371, USA.
Am J Med Genet A. 2005 Dec 1;139A(2):67-77. doi: 10.1002/ajmg.a.30915.
Epidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease. We describe a young man with ENS manifesting right-sided linear skin lesions, generalized weakness, diffuse osteopenia associated with hypophosphatemic rickets, and distinctive focal bone lesions ipsilateral to the skin findings. Review of the literature concerning ENS-associated skeletal disease suggested such focal bone defects are fibrous dysplasia, but our patient did not have the typical radiographic or histopathologic findings of fibrous dysplasia. Nevertheless, his circulating fibroblast growth factor 23 (FGF-23) level was elevated, likely functioning as a "phosphatonin," yet no activating mutations in GNAS previously reported in fibrous dysplasia or McCune-Albright syndrome were detected in his leukocytes or affected skin. We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF-23 in ENS.
表皮痣综合征（ENS）是一种罕见的、散发的、病因不明的先天性疾病，其特征是具有复杂且高度可变的表型，可包括局灶性或全身性骨骼疾病。我们描述了一名患有ENS的年轻男性，其表现为右侧线状皮肤病变、全身无力、与低磷血症性佝偻病相关的弥漫性骨质减少，以及与皮肤病变同侧的独特局灶性骨病变。对有关ENS相关骨骼疾病的文献回顾表明，这种局灶性骨缺损为骨纤维发育不良，但我们的患者没有骨纤维发育不良的典型影像学或组织病理学表现。然而，他循环中的成纤维细胞生长因子23（FGF - 23）水平升高，可能起到“磷调节素”的作用，但在他的白细胞或受影响的皮肤中未检测到先前在骨纤维发育不良或McCune - Albright综合征中报道的GNAS激活突变。我们推测，尽管局灶性骨骼疾病与骨纤维发育不良不同，但它可能是ENS中FGF - 23的一个来源。
