title: Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.
abstract: Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly.
authors.affiliation: Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslan
authors.forename: Rustu Fikret
authors.initials: RF
authors.lastname: Akata
authors.forename: Julia
authors.initials: J
authors.lastname: Schröder
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003884:Dermoid Cyst / Q000175:diagnosis*; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D006801:Humans; D017496:Hypopigmentation; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D012867:Skin / Q000473:pathology
keywords: Oculoectodermal syndrome; aplasia cutis congenita; digital anomaly; epibulbar dermoid; epidermal nevus; hypopigmented macule