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polyostotic sclerosing histiocytosis

Disease ID:1247
Name:polyostotic sclerosing histiocytosis
Associated with:0 target
1 immuno-relevant ligand
Erdheim–Chester disease | Erdheim–Chester syndrome
PSH is a rare, adult-onset, non-Langerhans-cell histiocytosis characterized by the abnormal proliferation of histiocytes, or tissue macrophages. It is a multisystemic disease, associated with systemic immune Th-1 oriented perturbation. More than 50% of PSH cases carry mutations in the BRAF proto-oncogene (BRAF-V600E; Haroche et al., 2017- PMID: 27234902 [in French]) .
Database Links
Orphanet: ORPHA35687


No target related data available for polyostotic sclerosing histiocytosis


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Ligand References Clinical and Disease comments
vemurafenib 1
Immuno Disease Comments: Approved drug for PSH with BRAF-V600 mutation.
Clinical Use: Used in the treatment of unresectable or metastatic melanoma in patients with the BRAF-V600 mutation. In November 2017, the FDA expanded approval to include treatment of Erdheim-Chester disease with BRAF-V600 mutation [1]. | View clinical data