Familial mastocytosis associated with neurosensory deafness

• DOI: 10.1046/j.1468-3083.2000.00018.x
• Publication Date: 2003-03-12T04:38:12Z
• Authors: Giusto Trevisan; Paolo Pauluzzi; Alessandro Gatti; Argeo Semeraro
• Keywords: Cutaneous Mastocytosis; Urticaria pigmentosa

Abstract Mastocytosis is a disease characterized by excessive accumulation of mast cells in different tissues and symptoms caused the release cell mediators. The skin frequently directly involved mastocytosis. rarely seen other members subjects’ family; only 49 cases familial mastocytosis have been reported. Familial associated with hearing loss may represent newly described inherited entity. We describe brother sister exhibiting neurosensory deafness, history their father’s family. appearance two siblings, who presented similar clinical features represents form mastocytosis; association an deafness constitute new syndrome. Our patients show several to some previously reported but insofar that additional congenital defects mental retardation are absent.