Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome

Brittney Schultz; Daniel D Miller; Sheilagh Maguiness

doi:10.1111/pde.13917

Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome

Pediatr Dermatol. 2019 Nov;36(6):913-917. doi: 10.1111/pde.13917. Epub 2019 Aug 4.

Authors

Brittney Schultz^{1

2}, Daniel D Miller¹, Sheilagh Maguiness¹

Affiliations

¹ Department of Dermatology, University of Minnesota, Minneapolis, Minnesota.
² Department of Internal Medicine, University of Minnesota, Minneapolis, Minnesota.

PMID: 31378009
DOI: 10.1111/pde.13917

Abstract

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.

Keywords: atypical progeroid syndrome; lamin type A; lipid metabolism; lipodystrophy; progeria.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Adult
Child, Preschool
Female
Grandparents
Humans
Hyperpigmentation / genetics*
Lamin Type A / genetics*
Male
Mothers
Mutation
Pedigree
Phenotype
Progeria / genetics*

Substances

LMNA protein, human
Lamin Type A