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Neonatal osteoma cutis due to a mutation in GNAS
Author(s) -
LevyShraga Yael,
Barel Ortal,
Javasky Elisheva,
Barzilai Aviv,
Greenberger Shoshana
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13879
Subject(s) - gnas complex locus , pseudohypoparathyroidism , medicine , failure to thrive , mutation , exome sequencing , endocrinology , parathyroid hormone , dermatology , genetics , calcium , biology , gene
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.