在一个家族内变异较大的刚果家庭中，脚趾甲上的皮肤皱襞是腘窝翼状胬肉综合征的特征性表现。

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

作者信息

Mubungu Gerrye, Lumaka Aimé, Matondo Rosette, Mbayabo Gloire, Tuka Deborah, Kayembe Claudarche, Mulowhe Didier, Molua Antoine, Tady Bruno-Paul, Nkidiaka Emmanuel, Bunga Paulo, Lukusa Tshilobo Prosper, Devriendt Koenraad

机构信息

Department of Pediatrics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa Democratic Republic of the Congo ; Institut National de Recherche Biomédicale Democratic Republic of the Congo.

出版信息

Clin Case Rep. 2014 Dec;2(6):250-3. doi: 10.1002/ccr3.101. Epub 2014 Sep 15.

DOI:10.1002/ccr3.101

PMID:25548624

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4270704/

Abstract

We report on three related Congolese popliteal pterygium syndrome (PPS) patients concordant only for the skinfold over the toenail. Mutation analysis revealed that the three affected individuals carried a heterozygous missense mutation in the Exon 4, NM_006147.2:c.250C>T; p.Arg84Cys. This is the first molecularly confirmed PPS family from central Africa.

摘要

我们报告了三名患有刚果腘翼状胬肉综合征（PPS）的相关患者，他们仅在 toenail 上方的皮肤褶皱方面表现一致。突变分析显示，这三名受影响的个体在 Exon 4（NM_006147.2:c.250C>T；p.Arg84Cys）中携带杂合错义突变。这是来自中非的首个经分子确认的 PPS 家族。