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一例伴有颅骨缺损和中枢神经系统畸形的广泛先天性皮肤发育不全:关于大面积皮肤缺损、并发症、治疗及预后的讨论

A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome.

作者信息

Burkhead A, Poindexter G, Morrell D S

机构信息

University of North Carolina School of Medicine, Chapel Hill, NC 27599-9535, USA.

出版信息

J Perinatol. 2009 Aug;29(8):582-4. doi: 10.1038/jp.2008.250.

Abstract

Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of a portion of skin at birth. Skin defects are usually small (0.5 to 3 cm) and located on the scalp. Although there can be other physical or genetic abnormalities, ACC is most often a benign isolated condition. Rarely is an underlying bony defect present, and this association increases the rate of complications. We report a case of a newborn male with ACC of the entire crown and vertex scalp, non-ossified parietal skull and dysplastic corpus callosum. The patient's skull and skin defects were treated non-surgically, and he recovered well.

摘要

先天性皮肤发育不全(ACC)是一种罕见病症,其特征为出生时即有部分皮肤缺失。皮肤缺损通常较小(0.5至3厘米),位于头皮。虽然可能存在其他身体或基因异常,但ACC大多是良性孤立病症。很少会出现潜在的骨缺损,而这种关联会增加并发症发生率。我们报告一例患有全头顶和头顶头皮ACC、未骨化的顶骨颅骨及发育异常胼胝体的新生儿男性病例。该患者的颅骨和皮肤缺损采用非手术治疗,恢复良好。

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