Neonatal osteoma cutis due to a mutation in GNAS

Pediatr Dermatol. 2019 Sep;36(5):732-734. doi: 10.1111/pde.13879. Epub 2019 Jun 18.

Abstract

We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.

Keywords: GNAS; osteoma cutis; pseudohypoparathyroidism.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Metabolic / genetics*
  • Bone Diseases, Metabolic / pathology*
  • Chromogranins / genetics*
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Ossification, Heterotopic / genetics*
  • Ossification, Heterotopic / pathology*
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology*

Substances

  • Chromogranins
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs

Supplementary concepts

  • Osseous Heteroplasia, Progressive