does focal bone disease harbor clues concerning pathogenesis?
Heike CL; Cunningham ML; Steiner RD; Wenkert D; Hornung RL; Gruss JS; Gannon FH; McAlister WH; Mumm S; Whyte MP Department of Pediatrics, Children’s Craniofacial Center, University of Washington and Children’s Hospital and Regional Medical Center, Seattle, Washington 98105-5371, USA. cheike@u.washington.edu 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 fibr
