title: Complex malformation (Ruggieri-Happle) phenotype with "cutis tricolor" in a 10-year-old girl.
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.
authors.affiliation: Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.forename: Mario
authors.initials: M
authors.lastname: Roggini
authors.forename: Laura
authors.initials: L
authors.lastname: Papetti
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ursitti
authors.forename: Luigi
authors.initials: L
authors.lastname: Tarani
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
mesh_terms: D002648:Child; D002806:Chondrodysplasia Punctata / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D017496:Hypopigmentation / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010641:Phenotype