title: Neonatal mastocytosis with pachydermic bullous skin without c-Kit 816 mutation.
abstract: BACKGROUND
  Bullous mastocytosis is an unusual variant of mast cell disease with widespread bullae as the main cutaneous feature induced by mast cell proteases that cause dermoepidermal separation.
  
  
  METHODS
  A rare case of diffuse cutaneous bullous mastocytosis with pachydermia and unusually extensive skin folding is described in a 3-week-old girl. The diagnosis was confirmed by immunohistochemistry with Giemsa stain, the naphthol ASD chloroacetate esterase reaction and elevated blood levels for tryptase, histamine in serum and histamine and 1.4-methylimidazol acetic acid in the 24-hour urine. Blood cell count was normal, as were thrombocytosis and leukocytosis. FACS analysis of the bone marrow aspiration material showed 1% mast cells. No c-Kit 816 [Asp-->Val] somatic mutation was found. Systemic involvement of other organs was excluded.
  
  
  CONCLUSIONS
  The prognosis of c-Kit-negative diffuse bullous mastocytosis is not known. Regular blood controls are mandatory, and screening for germ cell ovarian cancer and bone marrow controls should be performed as well.
authors.affiliation: Department of Dermatology, Mannheim University Clinic, Mannheim, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Walker
authors.forename: G
authors.initials: G
authors.lastname: von Komorowski
authors.forename: W
authors.initials: W
authors.lastname: Scheurlen
authors.forename: A
authors.initials: A
authors.lastname: Dorn-Beineke
authors.forename: W
authors.initials: W
authors.lastname: Back
authors.forename: C
authors.initials: C
authors.lastname: Bayerl
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D012867:Skin / Q000378:metabolism / Q000473:pathology*; D014582:Urticaria Pigmentosa / Q000235:genetics / Q000473:pathology*
chemical_list: D019009:Proto-Oncogene Proteins c-kit