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Brain Dev. 2012 Nov;34(10):869-72. doi: 10.1016/j.braindev.2012.01.015. Epub 2012 Feb 26.

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

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1
Department of Pediatrics, Child Neurology Division, Sapienza University of Rome, Italy.

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.

PMID:
22370055
DOI:
10.1016/j.braindev.2012.01.015
[Indexed for MEDLINE]
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