Department of Dermatology, University of California Davis, Sacramento, California, USA.
Department of Biochemistry and Molecular Medicine, University of California Davis, Sacramento, California, USA.
Pediatr Dermatol. 2023 May-Jun;40(3):523-527. doi: 10.1111/pde.15184. Epub 2022 Dec 1.
We present a case of SCALP syndrome, which was diagnosed in a male infant with the characteristic findings of sebaceous nevi, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and giant congenital melanocytic nevi, or pigmented nevi. We identified a germline compound heterozygous DOCK6 mutation and a somatic mosaic NRAS Q61R mutation in the giant congenital melanocytic nevus. This report will increase clinician awareness of SCALP syndrome and augment the literature in characterizing this rare syndrome, including its genetic background.
我们报告了一例 SCALP 综合征，该综合征在一名男性婴儿中被诊断出来，其特征性表现包括皮脂腺痣、中枢神经系统畸形、先天性表皮发育不全、角膜缘皮样瘤和巨大先天性黑素细胞痣或色素痣。我们在巨大先天性黑素细胞痣中发现了胚系复合杂合 DOCK6 突变和体细胞镶嵌 NRAS Q61R 突变。本报告将提高临床医生对 SCALP 综合征的认识，并丰富该罕见综合征的文献资料，包括其遗传背景。
