DOI 10.1016/j.joms.2015.01.007
Ossifying Fibroma in a Patient With Oculocerebrocutaneous (Delleman) Syndrome.
Аннотация
Delleman syndrome is a rare neurocutaneous disorder characterized by congenital anomalies affecting the eye, skin, and central nervous system. This disorder was first raised as a distinct syndromic entity by Delleman and Oorthuys in 1981 under the term "oculocerebrocutaneous syndrome" (OCCS). Since then, fewer than 40 cases have been reported. All cases have been sporadic, and no patient with an abnormal karyotype has been reported. Although the etiology is still unknown, several theories have been advanced. Most of the tissues affected by OCCS are neural crest derivatives, with a striking homogeneity of the tissues and regions involved. It is this recurring craniofacial pattern of OCCS that lends support to the hypothesis that the most probable pathogenesis is a neurocristopathy that interferes with craniofacial morphogenesis. Ossifying fibroma is a destructive, potentially deforming, benign tumor that can occur almost anywhere in the facial skeletion. Some cases of ossifying fibroma have occurred in patientswith underlying neurocutaneous syndromes such as neurofibromatosis, Sturge-Weber syndrome, and encephalocraniocutaneous lipomatosis (ECCL). We report a patient with OCCS who presented with an ossifying fibroma. This has not been reported previously and is noteworthy in that it might be part of a wider phenotypic spectrum of the less common manifestations associated with OCCS.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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