OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS


Mermer S., Kayhan G., Karacelebi E., Percin F. E.

GENETIC COUNSELING, vol.27, no.1, pp.77-81, 2016 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 1
  • Publication Date: 2016
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.77-81
  • Keywords: Oculoectodermal syndrome, Giant cell granuloma, Non-ossifying fibroma, Aplasia cutis congenita, Epibulbar dermoid, OCULO-ECTODERMAL SYNDROME, REPARATIVE GRANULOMA, MOSAICISM, PATTERNS, BONES, HANDS, FEET

Abstract

Oculoectodermal syndrome: a new case with giant cell granulomas and non-ossibting fibromas: Oculoectodermal syndrome (OES) is a very rare disorder with an unknown etiology and characterized by aplasia cutis congenita, epibulbar dermoid and hyperpigmentation areas on the skin. To the best of our knowledge, two cases of OES have been reported to date with recurrent giant cell granuloma in the jaw and one of them also had a non-ossified fibroma in the long bones. Herein, we report the second case with aplasia cutis congenita, epibulbar dermoid, hyperpigmentation along Blaschko lines and also giant cell granuloma in the jaw and non-ossified fibromas in the bones.