Aggressive systemic mastocytosis presenting as diffuse osteoblastic bone disease: a diagnostic pitfall mimicking metastatic cancer
Aggressive mastocytosis can rarely present with diffuse osteoblastic bone lesions mimicking metastatic disease.Elevated serum tryptase and histopathological confirmation are essential for diagnosis, even when KIT mutations are absent.Early recognition prevents unnecessary oncologic investigations and allows timely initiation of cytoreductive therapy.
Authors
- Hélder Diogo Gonçalves (ORCID: https://orcid.org/0000-0003-4908-2986)
- Mariana de Moura e Dias (ORCID: https://orcid.org/0000-0003-0822-0721)
- Ana Melício (ORCID: https://orcid.org/0009-0003-5386-6684)
- João Madeira Lopes
- Sara Teixeira
Institutions
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Hospital de Santa Maria (PT)
Publication Details
- Journal
- European Journal of Case Reports in Internal Medicine
- Published
- 2026-02-16
- DOI
- https://doi.org/10.12890/2026_006143
- Primary Topic
- Mast cells and histamine
- Type
- article
- Field-Weighted Citation Impact
- 0.00