伴有PIK3CA突变的面部先天性浸润性脂肪瘤病伴舌黏膜神经瘤。

Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

作者信息

Briand Clémence, Galmiche-Rolland Louise, Vabres Pierre, Couloigner Vincent, Audebert Severine, Misery Laurent, Abasq-Thomas Claire

机构信息

Department of Dermatology, University Hospital of Brest, Brest, France.

Department of Pathology, Necker Enfants Malades Hospital, APHP Paris, Paris, France.

出版信息

Pediatr Dermatol. 2020 Nov;37(6):1128-1130. doi: 10.1111/pde.14302. Epub 2020 Aug 8.

DOI:10.1111/pde.14302

PMID:32770747

Abstract

We report the case of a 5-year-old girl with congenital right-sided facial hemihypertrophy and right hemi-macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of the face (CILF), which belongs within the PIK3CA-related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation in PIK3CA H1047R. CILF/PROS should be considered in the differential diagnosis of mucosal neuromas.

摘要

我们报告了一名5岁女童的病例，她患有先天性右侧面部半侧肥大、右侧半侧巨舌症并伴有舌黏膜神经瘤。这些发现的节段性表现提示诊断为先天性面部浸润性脂肪瘤病（CILF），它属于PIK3CA相关过度生长谱系（PROS）。基因分析显示PIK3CA H1047R存在嵌合突变，从而证实了这一诊断。在黏膜神经瘤的鉴别诊断中应考虑CILF/PROS。