Lethal Restrictive Dermopathy with ZMPSTE24 Mutation

Pediatr Dev Pathol. 2022 May-Jun;25(3):327-329. doi: 10.1177/10935266211065316. Epub 2021 Dec 27.


Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the ZMPSTE24 gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.

Keywords: Van Gieson stain; ZMPSTE24; genodermatoses; lamin A; laminopathy; restrictive dermopathy.

Publication types

  • Case Reports

MeSH terms

  • Contracture* / congenital
  • Female
  • Humans
  • Lamin Type A* / genetics
  • Membrane Proteins* / genetics
  • Metalloendopeptidases* / genetics
  • Mutation
  • Pregnancy
  • Skin Abnormalities* / genetics


  • Lamin Type A
  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human

Supplementary concepts

  • Tight skin contracture syndrome, lethal