先天性表皮发育不全导致的假性颈蹼畸形。

Pseudo-cobra neck deformity due to aplasia cutis congenita.

机构信息

Weill Cornell Medicine, 320 E 54th St, Apt 4F, New York, 10022, USA.

Department of Otolaryngology-Head & Neck Surgery, New York-Presbyterian Hospital/Weill Cornell Medical Center, USA.

出版信息

Int J Pediatr Otorhinolaryngol. 2020 Dec;139:110457. doi: 10.1016/j.ijporl.2020.110457. Epub 2020 Oct 19.

DOI:10.1016/j.ijporl.2020.110457

PMID:33099192

Abstract

Aplasia cutis congenita is a rare but heterogeneous group of conditions characterized by the absence of one or more areas of skin sometimes extending to deeper tissues. The disorder as a solitary neck lesion has yet to be reported in the literature. Our patient presented with a pseudo-cobra neck deformity secondary to aplasia cutis congenita. Guidance on optimal management for non-scalp and more "benign" presentations of this disorder is lacking.

摘要

先天性皮肤发育不全是一组罕见但异质性的疾病，其特征是一处或多处皮肤缺失，有时还会延伸到更深的组织。该疾病仅累及颈部的孤立性病变在文献中尚未报道过。我们的患者因先天性皮肤发育不全导致假性蛇颈畸形。对于非头皮和更“良性”表现的这种疾病，缺乏最佳治疗方法的指导。