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.
Subject(s)
Antineoplastic Agents/therapeutic use , Benzamides/therapeutic use , Neurofibromatosis 1/complications , Piperazines/therapeutic use , Pyrimidines/therapeutic use , Skin Diseases, Vascular/drug therapy , Adult , Female , Humans , Imatinib Mesylate , Skin Diseases, Vascular/etiologyABSTRACT
Subcutaneous fat necrosis of the newborn is an uncommon, benign process in full-term infants or postmature neonates who experienced a perinatal distress. It is a transient condition of unknown origin; however, hypercalcemia may be a potentially life-threatening complication of this otherwise self-healing process. We report two cases of subcutaneous fat necrosis and discuss the clinical features, etiology, and complications of the disease.
