Progressive osseous heteroplasia

Definition:

Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation within the superficial dermal layer of the skin.

References:

[1]. Eileen M Shore, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan 10;346(2):99-106. [Content Brief]

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