title: Oculoectodermal syndrome: twentieth described case with new manifestations.
abstract: Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the disease to include: diffuse hyperpigmentation (some following the Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the right fronto-parietal border; rounded left side of the hippocampus; and dermoid cyst underlying the bulb-medullary transition. Our patient also reported infantile hemangioma on the right wrist and verrucous hemangioma on the left leg, the latter not previously described in the literature.
authors.affiliation: Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
authors.forename: Daniela de Almeida
authors.initials: DA
authors.lastname: Figueiras
authors.affiliation: Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
authors.forename: Deborah Maria de Castro Barbosa
authors.initials: DM
authors.lastname: Leal
authors.affiliation: Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
authors.forename: Valter
authors.initials: V
authors.lastname: Kozmhinsky
authors.affiliation: Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
authors.forename: Marina Coutinho Domingues
authors.initials: MC
authors.lastname: Querino
authors.affiliation: Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
authors.forename: Marina Genesia da Silva
authors.initials: MG
authors.lastname: Regueira
authors.affiliation: Instituto de Medicina Integral Professor Fernando Figueira (IMIP) - Recife (PE), Brazil.
authors.forename: Maria Gabriela de Morais
authors.initials: MG
authors.lastname: Studart
mesh_terms: D002675:Child, Preschool; D003229:Conjunctival Diseases / Q000473:pathology; D003316:Corneal Diseases / Q000473:pathology; D003884:Dermoid Cyst / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005260:Female; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology