title: Congenital complex corneal choristoma associated with unilateral bony calvarial defects, subcutaneous nodules, and alopecia.
abstract: Complex corneal choristoma is a rare finding and its relationship with systemic disease is poorly understood. We present a 3-day-old boy with the constellation of left-sided congenital complex corneal choristoma, limbal dermoid, ipsilateral bony skull defects, and bilateral subcutaneous vascularized nodules with overlying alopecia and scalp nevi. To our knowledge this is the first case of complex choristoma involving the presence of associated bony calvarial defects. This presentation may contribute to a greater understanding of the systemic findings associated with the condition. Furthermore, it may shed light on the possible syndromic spectrum associated with complex choristoma and its underlying pathophysiology.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah.
authors.forename: Leah A
authors.initials: LA
authors.lastname: Owen
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah.
authors.forename: Joshua
authors.initials: J
authors.lastname: Ford
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah.
authors.forename: Nick
authors.initials: N
authors.lastname: Mamalis
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah.
authors.forename: Robert
authors.initials: R
authors.lastname: Hoffman
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah. Electronic address: Mark.Mifflin@hsc.utah.edu.
authors.forename: Mark
authors.initials: M
authors.lastname: Mifflin
mesh_terms: D000273:Adipose Tissue; D000505:Alopecia / Q000175:diagnosis*; D002356:Cartilage; D002828:Choristoma / Q000473:pathology*; D003316:Corneal Diseases / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D007231:Infant, Newborn; D007765:Lacrimal Apparatus; D008279:Magnetic Resonance Imaging; D008297:Male; D065706:Polymicrogyria / Q000175:diagnosis; D012886:Skull / Q000002:abnormalities*; D040521:Subcutaneous Tissue / Q000473:pathology; D014057:Tomography, X-Ray Computed