A Novel Spindle Cell Population in a Case of Primary Osteoma Cutis With GNAS Mutation.

ABSTRACT: Primary osteoma cutis is a rare condition belonging to a spectrum of related genetic disorders, including progressive osseous heteroplasia, plate-like osteoma cutis, and Albright hereditary osteodystrophy, which share identical histologies with cutaneous intramembranous ossification and mutations in GNAS. We report a case of a 15-week-old girl who presented with an enlarging, indurated subcutaneous lesion on her right flank. CT scan showed an extensive subcutaneous sheet of calcification. Histologic evaluation revealed heterotopic calcification and intramembranous ossification within the dermis and mature bone largely replacing the subcutaneous fat compatible with osteoma cutis. Molecular testing was performed and identified an inactivating GNAS mutation. Unique to this case is a dermal pr

SUBMITTER: Beatty C 

PROVIDER: S-EPMC7457310 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature