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We describe a young man with ENS manifesting right\u2010sided 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\u2013associated 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\u201023) level was elevated, likely functioning as a \u201cphosphatonin,\u201d yet no activating mutations in<jats:italic>GNAS<\/jats:italic>previously reported in fibrous dysplasia or McCune\u2013Albright 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\u201023 in ENS. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30915","type":"journal-article","created":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T19:46:28Z","timestamp":1129146388000},"page":"67-77","source":"Crossref","is-referenced-by-count":41,"title":["Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?"],"prefix":"10.1002","volume":"139A","author":[{"given":"Carrie L.","family":"Heike","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Cunningham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert 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