title: Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.
abstract: BACKGROUND
  The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported so far: (i) as pure cutaneous trait, (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome--RHS), (iii) as a distinct type (cutis tricolor parvimaculata); (iv) in association with other (e. g., vascular) skin disturbances.
  
  
  OBJECTIVE
  The aim of this study was to define the spectrum of neurological abnormalities in cutis tricolor.
  
  
  METHODS
  A retrospective and prospective 14-year study of clinical, electroencephalographic (EEG), neuroradiological (MRI), cytogenetic and ZFHX1B gene studies of 14 individuals (8 M, 6 F; aged 2-28 years) with cutis tricolor (4 pure cutaneous; 10 syndromic) was undertaken.
  
  
  RESULTS
  Neurological involvement was recorded in 71.4% (10/14) of the patients [100% (10/10) in RHS and null (0/4) in cases with isolated skin manifestations] and included psychomotor delay (n=8), seizures (n=9), EEG abnormalities (n=6), a behavioural phenotype (n=4), non-specific brain abnormalities (n=6). Genetic analyses excluded ZFHX1B mutations and revealed a 19qter deletion (n=1).
  
  
  CONCLUSIONS
  Even though we could not exclude the ascertainment and referral biases, we concluded that cutis tricolor may be a marker of underlying neurological involvement particularly in subjects with a syndromic (RHS) phenotype.
authors.affiliation: Department of Paediatrics, University of Catania, Catania, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Lionetti
authors.forename: P
authors.initials: P
authors.lastname: Pavone
authors.forename: I
authors.initials: I
authors.lastname: Kennerknecht
authors.forename: G
authors.initials: G
authors.lastname: Failla
authors.forename: C
authors.initials: C
authors.lastname: Schepis
authors.forename: R
authors.initials: R
authors.lastname: De Pasquale
authors.forename: L
authors.initials: L
authors.lastname: Pavone
authors.forename: M
authors.initials: M
authors.lastname: Ruggieri
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000473:pathology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology*; D009460:Neurologic Examination / Q000379:methods; D009483:Neuropsychological Tests; D010641:Phenotype; D010859:Pigmentation Disorders / Q000150:complications* / Q000473:pathology*; D012189:Retrospective Studies; D012867:Skin / Q000473:pathology; D055815:Young Adult