title: Phenotypic characterization of epibulbar dermoids.
abstract: The purpose of this study was to characterize the phenotypic presentation, clinical course, and outcomes of epibulbar dermoids (EpDs) which are the most common congenital eye tumor in children. Sixty-eight dermoids were identified in 58 eyes of 48 patients of Seattle Children's Hospital between 1981 and 2014 via electronic medical record search. Patients were organized into: "EpD-Only" [patients without other congenital anomalies (n = 13)], "EpD-CFM" [patients with a craniofacial microsomia (CFM) diagnosis (n = 25)], and "EpD-Other" [patients with other congenital anomalies (n = 10)]. All EpD in the EpD-Only group were unilateral and singular, while the EpD-CFM group had six cases with multiple unilateral EpD and five cases with bilateral EpD. In the EpD-Only group, 69 % of EpD were left sided, whereas in the EpD-CFM group, there was no side predisposition. Among both groups, the majority of EpD were limbal or lipodermoids in the inferotemporal quadrant of the eye. Surgery was more common and at a younger age in the EpD-CFM group than the EpD-Only group (56 vs. 38 %, 5.2 vs. 7.0 years). Follow-up surgeries occurred only in the EpD-CFM group (21 %). EpDs were most commonly associated with preauricular tags, congenital heart defects, genitourinary, and nervous system anomalies. Whereas the location and type of EpDs did not significantly differ between the groups, the phenotype in the EpD-Only group appears to be less complex. This may indicate an important difference between EpDs in isolation and those within CFM. Additional studies will further characterize these phenotypes and outcomes.
authors.affiliation: University of Washington School of Medicine, Seattle, WA, USA. ballenw@uw.edu.|Seattle Children's Research Institute, Seattle, WA, USA. ballenw@uw.edu.
authors.forename: Brian A
authors.initials: BA
authors.lastname: Walker
authors.affiliation: Seattle Children's Research Institute, Seattle, WA, USA.|Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.
authors.forename: Babette S
authors.initials: BS
authors.lastname: Saltzman
authors.affiliation: Department of Ophthalmology, University of Washington, Seattle, WA, USA.|Department of Surgery, Division of Pediatric Ophthalmology, Seattle Children's Hospital, Seattle, WA, USA.
authors.forename: Erin P
authors.initials: EP
authors.lastname: Herlihy
authors.affiliation: Seattle Children's Research Institute, Seattle, WA, USA.|Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.|Department of Pediatrics, University of Washington, Seattle, WA, USA.
authors.forename: Daniela V
authors.initials: DV
authors.lastname: Luquetti
mesh_terms: D002648:Child; D002675:Child, Preschool; D003884:Dermoid Cyst / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology; D005134:Eye Neoplasms / Q000151:congenital / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D012189:Retrospective Studies; D014481:United States / Q000453:epidemiology
keywords: Craniofacial microsomia; Epibulbar dermoid; Goldenhar syndrome; Orbital tumor