polyostotic sclerosing histiocytosis

Disease ID:1247
Name:polyostotic sclerosing histiocytosis
Associated with:0 target
1 immuno-relevant ligand
Synonyms
Erdheim–Chester disease | Erdheim–Chester syndrome
Description
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

Targets

No target related data available for polyostotic sclerosing histiocytosis

Ligands

Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
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