Complex malformation (Ruggieri-Happle) phenotype with "cutis tricolor" in a 10-year-old girl

Francesco Nicita, Alberto Spalice, Mario Roggini, Laura Papetti, Fabiana Ursitti, Luigi Tarani, Martino Ruggieri

Research output: Contribution to journalArticlepeer-review

Abstract

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. It is currently regarded as a twin-spotting phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far: (a) as an isolated skin manifestation; (b) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (c) as a distinct phenotype [cutis tricolor parvimaculata]; (d) in association with other (e.g., vascular) skin disturbances. We report a novel case of cutis tricolor in a 10-year-old girl who had dysmorphic facial features [alike those seen in cases with syndromic (RHS) cutis tricolor], overall overgrowth [weight, length, and head circumference were >90th percentile; there was increased bone age], mild cognitive delay (current IQ = 55), behavioural disturbances, febrile seizures and (later) partial complex epilepsy (currently under good control), and skeletal defects [i.e., posterior scalloping of the lumbar vertebrae]. We discuss the main similarities and differences between the various phenotypes in the spectrum of cutis tricolor and with other conditions sharing features with the present case.

Original languageEnglish
Pages (from-to)869-872
Number of pages4
JournalBrain and Development
Volume34
Issue number10
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Cutis tricolor
  • Mosaicism
  • Neurocutaneous syndrome
  • Skeletal dysplasia
  • Skin

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

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