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Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor (Articolo in rivista)

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Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor (Articolo in rivista) (literal)

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Ruggieri M. 1,2, Iannetti P. 3, Pavone L. 2 (2003)
Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor
(literal)

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This newly recognised malformation complex syndromes bears Dr Ruggieri's and Dr Happle's names (Ruggieri-Happle syndrome) after its first description in 1997 (Happle et al 1997) and its complete delineation (Ruggieri 2000; Ruggieri et al 2003) [Ruggieri-Happle (cutis tricolor) syndrome] (literal)

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Institute of Neurological Science, National Research Council, Catania Department of Pediatrics, Uiversity of Rome \"La Sapienza\", Rome Department of Pediatric, Uiversity of Catania (literal)

Titolo

Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor (literal)

Abstract

The term cutis tricolor describes the combination of congenital hyper- and hypopigmented lesions, in close proximity to each other with a background of normal skin. Cutis tricolor represents twin spotting and has been reported as an isolated skin disorder or as part of a neurocutaneous malformation syndrome. We report on an 11-year-old girl with diffuse pigmentary changes of the cutis tricolor, facial anomalies, epileptic seizures, EEG anomalies, small skull, progressive, double-curved, thoracolumbar/lumbar scoliosis with vertebral scalloping and dysplastic vertebral pedicles and ribs and tibial bowing. These abnormalities are similar to those observed in cases reported by Happle et al [1997] and Ruggieri [2000]. Additionally, our patient had altered behavior and hypoplasia of the corpus callosum. Thus constellation of abnormalities represent a newly recognized neurocutaneous malformation syndrome. The phenotype could be explained by somatic mutation. Loss of heterozygosity at an early developmental stage would give rise to one single mosaic skin disorder (e.g., generalised skin manifestations of the cutis tricolor type in association to extracutaneous anomalies). Post zygotic recombination occurring later during embryo genesis would give rise to solitary lesions (confined to the skin). (literal)

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