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先天性皮肤发育不全伴大疱性表皮松解症

[Aplasia cutis congenita associated with epidermolysis bullosa].

作者信息

Muñoz-Guerrero Félix, Muñoz-Solís Adrián Antonio, Ornelas-Aguirre José Manuel

机构信息

Unidad Médica de Alta Especialidad, Unidad de Quemados, Hospital de Especialidades No. 2, Instituto Mexicano del Seguro Social, Ciudad Obregón, Sonora, México.

Servicio de Urgencias Médicas, Hospital General de Zona No. 30, Instituto Mexicano del Seguro Social, Mexicali, Baja California, México.

出版信息

Cir Cir. 2017 Dec;85 Suppl 1:76-79. doi: 10.1016/j.circir.2016.10.017. Epub 2016 Dec 12.

Abstract

INTRODUCTION

Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical.

CASE REPORT

Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum. It was handled with allograft of epidermis cultured in vitro, general wound care and clinical follow-up.

DISCUSSION

ACC associated with epidermolysis bullosa is one of the rarer forms of presentation. It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow.

摘要

引言

先天性皮肤发育不全(ACC)是一种罕见的皮肤疾病,其特征为出生时即无皮肤,并伴有面部、皮肤及颅骨畸形。诊断主要依靠临床症状。

病例报告

患儿为男性,出生5天,系初产妇单胎,家族史无相关异常。体格检查发现双下肢双侧对称性皮肤缺损,表现为皮肤脆弱、结痂及覆盖假膜性溃疡,左脚趾间间隙减小,足内收及膝内翻。采用体外培养的表皮同种异体移植、常规伤口护理及临床随访进行处理。

讨论

ACC合并大疱性表皮松解症是较为罕见的表现形式之一。有必要排除其他皮肤疾病。建议临床治疗采用生物或合成皮肤覆盖、预防感染、早期处理并发症及临床随访。

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