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Article

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

12 Oct 2005

Abstract excerpt

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...

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PMID: 16222671
DOI: 10.1002/ajmg.a.30915

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