title: Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.
abstract: BACKGROUND
  Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by the appearance of hyperpigmented patches on the skin from early infancy that increase in size and number with age.
  
  
  METHODS
  We report the clinical and molecular studies of an 11-year-old boy who had areas of hyperpigmentation since birth that had spread across his body as irregular hyperpigmented macules and papules, and include relevant history in family members.
  
  
  RESULTS
  Affected members of his family shared a mutation in the c-KIT gene. All had progressive hyperpigmentation, in some cases accompanied by gastrointestinal stromal tumors and mastocytoma. There have been few reports of familial progressive hyperpigmentation together with systemic manifestations.
  
  
  CONCLUSIONS
  Molecular analysis of c-KIT should be considered in the presence of FPH with systemic involvement.
authors.affiliation: Service of Dermatology, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Piqueres-Zubiaurre
authors.affiliation: Service of Dermatology, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
authors.forename: Zuriñe
authors.initials: Z
authors.lastname: Martínez de Lagrán
authors.affiliation: Service of Dermatology, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
authors.forename: Ricardo
authors.initials: R
authors.lastname: González-Pérez
authors.affiliation: Service of Dermatology, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
authors.forename: Amaia
authors.initials: A
authors.lastname: Urtaran-Ibarzabal
authors.affiliation: (Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
authors.forename: Guiomar
authors.initials: G
authors.lastname: Perez de Nanclares
mesh_terms: D002648:Child; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D007223:Infant; D008297:Male; D034701:Mastocytosis, Cutaneous / Q000235:genetics*; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: D019009:Proto-Oncogene Proteins c-kit