Aslan Deniz, Akata Rustu Fikret, Schröder Julia, Happle Rudolf, Moog Ute, Bartsch Oliver
Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.
Am J Med Genet A. 2014 Nov;164A(11):2947-51. doi: 10.1002/ajmg.a.36727. Epub 2014 Sep 22.
Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly.
眼外胚层综合征(OMIM 600268)较为罕见,其特征为先天性皮肤发育不全、眼球表面皮样囊肿及其他异常。我们在此报告一名新确诊的眼外胚层综合征患者,这是第19例报告的眼外胚层综合征患者。该6岁男孩表现出了这一病症广泛的临床症状,包括先天性皮肤发育不全、眼球表面皮样囊肿、角化过度丘疹、小脑延髓池轻度扩大以及四叠体池内液性腔隙增大提示囊肿形成。他还表现出了与该病症无关的异常情况,包括沿布拉斯科线分布的系统性表皮痣、色素减退性皮肤病变以及轻度手指异常。