Case report identifies a unique mutation in GNAS causing progressive osseous heteroplasia, emphasizing genetic testing's role in diagnosis.
We report a 8-month-old boy with multiple dark reddish-brown atrophy spots that appeared throughout the body and light yellow or leathery nodules on the scalp, trunk, and limbs that were difficult to diagnose and were biopsied. Immunohistochemistry and genetic testing for inherited skin diseases in the family enabled the diagnosis of progressive osseous heteroplasia. This case emphasizes the importance of knowledge about this entity, which is necessary for early detection and genetic counseling of parents.
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Lin et al. (2025) studied this question.
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