Schultz Brittney, Miller Daniel D, Maguiness Sheilagh
Department of Dermatology, University of Minnesota, Minneapolis, Minnesota.
Department of Internal Medicine, University of Minnesota, Minneapolis, Minnesota.
Pediatr Dermatol. 2019 Nov;36(6):913-917. doi: 10.1111/pde.13917. Epub 2019 Aug 4.
We present a multigenerational family with a phenotypic spectrum of skin dyspigmentation, lipodystrophy, bony anomalies, and progeroid facies. All were found to be heterozygous for a c.11C>G (p.Pro4Arg) (P4R) mutation in the lamin A/C gene consistent with atypical progeroid syndrome. Various phenotypic associations have been reported with specific mutations in atypical progeroid syndrome, but the strength of each phenotype-genotype relationship is unknown. This report adds to the literature of patients with atypical progeroid syndrome and highlights an unusual diagnosis that may present to dermatologists.
我们展示了一个具有皮肤色素沉着异常、脂肪营养不良、骨骼异常和早老样面容等一系列表型的多代家族。所有成员均被发现 lamin A/C 基因存在 c.11C>G（p.Pro4Arg）（P4R）突变的杂合子，这与非典型早老综合征一致。已有报道非典型早老综合征的特定突变存在各种表型关联，但每种表型 - 基因型关系的强度尚不清楚。本报告丰富了非典型早老综合征患者的文献，并突出了一种可能会出现在皮肤科医生面前的不寻常诊断。
