title: A deep penetrating facial congenital melanocytic tumor with bone involvement and ipsilateral eye blindness.
abstract: Bone involvement has been described in tumors with melanocytic differentiation such as melanotic neuroectodermal tumor of infancy, and very rarely in cellular blue nevi and neurocristic cutaneous hamartoma. We present an unusual case of facial congenital melanocytic tumor that involved the underlying bones and maxillary sinus and led to unilateral blindness. A newborn with a large red bluish patch with peripheral brown and black macules overlying marked swelling on the left side of his face was presented. The tumor was shown by magnetic resonance imaging, scintigraphy, and histopathology to invade the underlying bones and maxillary sinus and to compress the left eyeball resulting in blindness. Histopathology, immunohistochemistry, morphometric computerized microscopy, molecular genetic mutation analysis, and fluorescent in situ hybridization studies were more congruent with a melanocytic nevus. An 8.5-year follow-up was uneventful, with spontaneous partial shrinkage of the tumor.
authors.affiliation: Departments of *Dermatology, †Pediatric Oncology, ‡Nuclear Medicine, §Ophthalmology, and ¶Pathology, Rambam Health Care Campus and The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel; ‖Department of Pathology, Hadassah Medical Center, Jerusalem, Israel; **Department of Dermatology, NorthWestern University School of Medicine, Chicago, IL; and ††Department of Radiology, Rambam Health Care Campus and The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Miriam W
authors.initials: MW
authors.lastname: Ben-Arush
authors.forename: Rachel
authors.initials: R
authors.lastname: Bar-Shalom
authors.forename: Michael
authors.initials: M
authors.lastname: Gilboa
authors.forename: Einav
authors.initials: E
authors.lastname: Simon
authors.forename: Dov
authors.initials: D
authors.lastname: Hershkovitz
authors.forename: Edmond
authors.initials: E
authors.lastname: Sabo
authors.forename: Alexander
authors.initials: A
authors.lastname: Maly
authors.forename: Pedram
authors.initials: P
authors.lastname: Gerami
authors.forename: Dorith
authors.initials: D
authors.lastname: Goldsher
mesh_terms: D000367:Age Factors; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D001766:Blindness / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D005147:Facial Bones / Q000737:chemistry / Q000473:pathology*; D006258:Head and Neck Neoplasms / Q000737:chemistry / Q000151:congenital* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008443:Maxillary Sinus / Q000473:pathology; D064847:Multimodal Imaging; D009361:Neoplasm Invasiveness; D009508:Nevus, Pigmented / Q000737:chemistry / Q000151:congenital* / Q000473:pathology* / Q000628:therapy; D049268:Positron-Emission Tomography; D011237:Predictive Value of Tests; D011379:Prognosis; D012878:Skin Neoplasms / Q000737:chemistry / Q000151:congenital* / Q000473:pathology* / Q000628:therapy; D014057:Tomography, X-Ray Computed; D047368:Tumor Burden
chemical_list: D014408:Biomarkers, Tumor