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 language | English (US) |
---|---|
Pages (from-to) | 913-917 |
Number of pages | 5 |
Journal | Pediatric Dermatology |
Volume | 36 |
Issue number | 6 |
DOIs | |
State | Published - Nov 1 2019 |
Keywords
- atypical progeroid syndrome
- lamin type A
- lipid metabolism
- lipodystrophy
- progeria
PubMed: MeSH publication types
- Case Reports