Neonatal osteoma cutis due to a mutation in GNAS

Yael Levy-Shraga*, Ortal Barel, Elisheva Javasky, Aviv Barzilai, Shoshana Greenberger

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)732-734
Number of pages3
JournalPediatric Dermatology
Issue number5
StatePublished - 1 Sep 2019


  • GNAS
  • osteoma cutis
  • pseudohypoparathyroidism


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