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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalPediatric Dermatology
DOIs
StatePublished - Jan 1 2019

Fingerprint

Hyperpigmentation
Mothers
Mutation
Lamin Type A
Genes
Lipodystrophy
Genotype
Phenotype
Skin
Grandparents

Keywords

  • atypical progeroid syndrome
  • lamin type A
  • lipid metabolism
  • lipodystrophy
  • progeria

PubMed: MeSH publication types

  • Case Reports

Cite this

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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.",
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