Epidermal nevi and localized cranial defects

Nicola Ho, Carmen Roig, Paula Diadori

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a girl with a congenital pigmented hairy nevus of the scalp, epidermal nevi of the right temple, and localized cranial defects. We have not found other reported cases of giant pigmented hairy nevus of the scalp occurring with absence of underlying cranial bone. We speculate that the localized cranial defects are undergrowth anomalies representative of a paracrinopathy from the overlying nevus or simultaneous bone/skin dysplasia, the former having been resorbed. In the absence of a familial history of epidermal nevi and/or seizures, our patient represents a sporadic case, perhaps a somatic mutation.

Original languageEnglish (US)
Pages (from-to)187-190
Number of pages4
JournalAmerican journal of medical genetics
Volume83
Issue number3
DOIs
StatePublished - Mar 19 1999

Keywords

  • Epidermal nevi
  • Giant hairy pigmented nevi
  • Localized cranial defects

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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