Oculoectodermal syndrome: twentieth described case with new manifestations

• Autor(a) principal: Figueiras,Daniela de Almeida
• Data de Publicação: 2016
• Outros Autores: Leal,Deborah Maria de Castro Barbosa, Kozmhinsky,Valter, Querino,Marina Coutinho Domingues, Regueira,Marina Genesia da Silva, Studart,Maria Gabriela de Morais
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Anais brasileiros de dermatologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962016001100160
• topic: Astigmatism; Dermoid Cyst; Ecchymosis; Hemangioma; Hyperpigmentation; Hypopigmentation

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.