Neurological Manifestations in Individuals with Pure Cutaneous or Syndromic (Ruggieri-Happle Syndrome) Phenotypes with "Cutis Tricolor": A Study of 14 Cases

作者：Lionetti E; Pavone P; Kennerknecht I; Failla G; Schepis C; De Pasquale R; Pavone L; Ruggieri M^*

来源：Neuropediatrics, 2010, 41(2): 60-65.

DOI：10.1055/s-0030-1261919

• cutis tricolor
• neurology
• Ruggieri-Happle syndrome

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.
Aim: 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.

• 出版日期2010-8