title: Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report.
abstract: BACKGROUND
  Hypomelanosis of Ito is a rare neurocutaneous disorder, characterized by streaks and swirls of hypopigmentation following the lines of Blaschko that may be associated to systemic abnormalities involving the central nervous system and musculoskeletal system. Despite the preponderance of reported sporadic hypomelanosis of Ito, few reports of familial hypomelanosis of Ito have been described.
  
  
  METHODS
  A 6-month-old Caucasian girl presented with unilateral areas of hypomelanosis distributed on the left half of her body and her father presented with similar mosaic hypopigmented lesions on his upper chest. Whereas both blood karyotypes obtained from peripheral lymphocyte cultures were normal, a 16% trisomy 2 mosaicism was found in cultured skinfibroblasts derived from a hypopigmented skin area of her father.
  
  
  CONCLUSIONS
  Familial cases of hypomelanosis of Ito are very rare and can occur in patients without systemic involvement. Hypomelanosis of Ito constitutes a non-specific diagnostic definition including different clinical entities with a wide phenotypic variability, either sporadic or familial. Unfortunately, a large number of cases remain misdiagnosed due to both diagnostic challenges and controversial issues on cutaneous biopsies in the pediatric population.
authors.affiliation: Department of Clinical and Diagnostic Medicine and Public Health, University of Modena and Reggio Emilia, via del Pozzo 71, 41124 Modena, Italy. giovanni.ponti@unimore.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ponti
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pellacani
authors.forename: Aldo
authors.initials: A
authors.lastname: Tomasi
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
authors.forename: Carmelo
authors.initials: C
authors.lastname: Guarneri
authors.forename: Azzurra
authors.initials: A
authors.lastname: Guerra
authors.forename: Victor Desmond
authors.initials: VD
authors.lastname: Mandel
authors.forename: Elif
authors.initials: E
authors.lastname: Kisla
authors.forename: Piril
authors.initials: P
authors.lastname: Cevikel
authors.forename: Claudia
authors.initials: C
authors.lastname: Neri
authors.forename: Cristina
authors.initials: C
authors.lastname: Menozzi
authors.forename: Stefania
authors.initials: S
authors.lastname: Seidenari
mesh_terms: D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D007223:Infant; D009030:Mosaicism; D014314:Trisomy / Q000175:diagnosis*