Characterization and diagnosis of Paget Disease of Bone in historical individuals.

Authors

Mackenzie A Dagrosa, Katherine D Van Schaik

Published in

Frontiers in medicine. Volume 13. Pages 1843305. Epub Jun 24, 2026.

Abstract

Paget Disease of Bone (PDB) is a chronic metabolic disorder characterized by accelerated, disorganized bone remodeling resulting in structural enlargement and mechanical weakness. This review synthesizes 38 historical cases drawn from a three-journal convenience sample restricted to English-language literature; observed geographic patterns should therefore be interpreted with caution, as they may reflect research and publication bias rather than the true paleopathological distribution of the disease. Within our sampled literature, modern clinical cases are declining in prevalence while the archeological record suggests a spike in medieval Northwest Europe characterized by more severe, polyostotic manifestations - though this apparent concentration may partly reflect the geographic focus of the journals searched rather than a true biological pattern. Crucially, a microscopically confirmed case from Byzantine Jordan and a pre-contact case from Ontario demonstrate that PDB existed outside Europe in antiquity, and the apparent rarity of non-European ancient PDB almost certainly reflects under-research of non-European assemblages and non-English-language literature rather than true biological absence. Historically, subjective macroscopic identification of "pumice-like" textures has proven unreliable. Current best-practice protocols require interdisciplinary integration of radiography to identify "blade of grass" lesions and histology to confirm pathognomonic mosaic cement lines. While the SQSTM1 protein was detected with abnormalities in medieval remains, the modern familial SQSTM1 point mutations were absent - raising the possibility of a distinct ancient pathogenic mechanism. We speculate, as a hypothesis requiring further molecular evidence across broader geographic and temporal samples, that PDB may have undergone a fundamental etiological shift over the past millennium; this interpretation remains provisional and should not be read as a confirmed conclusion.

PMID:
42422829
Bibliographic data and abstract were imported from PubMed on 09 Jul 2026.

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