鳃-眼-面综合征一例：临床及组织病理学特征

A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features.

作者信息

Iraji Fariba, Shahbazi Masoom, Abtahi-Naeini Bahareh, Asilian Ali, Shahmoradi Zabihollah, Bostakian Anis, Rajabi Parvin, Kazemipour Samira

机构信息

Department of Pathology, Skin Diseases and Leishmaniasis Research Center, Isfahan, Iran.

Department of Pathology, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2018 Nov 27;7:145. doi: 10.4103/abr.abr_31_18. eCollection 2018.

DOI:10.4103/abr.abr_31_18

PMID:30596055

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6282485/

Abstract

Branchio-oculo-facial syndrome (BOFS), a rare, multiple-malformation congenital disorder, is characterized by facial anomalies, including associated cutaneous and ocular abnormalities. We report a new case of BOFS in an 11-year-old male child with bilateral cervical erythematous scaly linear plaque associated with scar formation and erosion. Although BOFS is very rare, physicians, especially dermatologists, should be aware of the cutaneous and histopathological features of BOFS due to impacts of the associated anomalies.

摘要

鳃裂-眼-面综合征（BOFS）是一种罕见的多发性畸形先天性疾病，其特征为面部异常，包括相关的皮肤和眼部异常。我们报告一例11岁男性儿童患BOFS的新病例，其双侧颈部有红斑鳞屑性线性斑块，并伴有瘢痕形成和糜烂。尽管BOFS非常罕见，但由于相关异常的影响，医生，尤其是皮肤科医生，应了解BOFS的皮肤和组织病理学特征。