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Hypomelanosis of Ito with trisomy 18 mosaicism

✍ Scribed by Grazia, Rodolfo ;Tullini, Andrea ;Rossi, Paola Giovanardi ;Neri, Iria ;Patrizi, Annalisa ;Croci, Gianfranco ;Manenti, Elisabetta ;Gobbi, Giuseppe

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
135 KB
Volume
45
Category
Article
ISSN
0148-7299

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We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectod

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Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort

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Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of thi