title: Use of imatinib in a patient with cutaneous vasculopathy in the context of von Recklinghausen disease/neurofibromatosis.
abstract: von Recklinghausen disease/neurofibromatosis (NF) is caused by an autosomal dominant mutation in NF1, resulting in a deficiency of neurofibromin 1, a protein with a tumour suppressor function in the Ras-extracellular regulated kinase pathway. The disease comprises a variety of clinical manifestations, including vascular abnormalities. Large vessel abnormalities are well known, while small vessels of the skin are very rarely involved. The latter can cause livedo, necrosis and painful ulcers. For such ulcers, all invasive therapies (e.g. surgery and radiotherapy) are harmful and should be avoided. Herein, we describe a patient with NF and cutaneous vasculopathy treated with imatinib, a tyrosine kinase inhibitor.
authors.affiliation: Department of Dermatology, University Hospital of Geneva, 4 Rue Gabrielle Perret-Gentil, Geneva, 1205, Switzerland.
authors.forename: I
authors.initials: I
authors.lastname: Khelifa
authors.forename: J H
authors.initials: JH
authors.lastname: Saurat
authors.forename: C
authors.initials: C
authors.lastname: Prins
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001549:Benzamides / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D000068877:Imatinib Mesylate; D009456:Neurofibromatosis 1 / Q000150:complications*; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D017445:Skin Diseases, Vascular / Q000188:drug therapy* / Q000209:etiology
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate