Hypopigmentation of newborn skinBMJ 2016; 352 doi: https://doi.org/10.1136/bmj.i860 (Published 16 February 2016) Cite this as: BMJ 2016;352:i860
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Hypomelanosis of Ito is not a single or a distinctive syndromic entity, but rather a manifestation of many different states of mosaicism either for a chromosome aberration or occasionally single gene defects. (1) It is now apparent that many of these cases are in fact mosaic for chromosome aberrations. (2) The cutaneous lesions may be unilateral or bilateral and consist of linear areas of depigmentation, mostly over the trunk, following the lines of Blaschko. (3)
Although many features mentioned are similar to those of classic incontinentia pigmenti (IP), Almost all cases are in females and the condition appears to be X-linked dominant with early intrauterine lethality in males. The report is lacking family history of neurological deficits , mental retardation and principally maternal history of spontaneous abortions, stillbirths, and or perinatal / neonatal mortalities?
IP appeared between birth and 6 weeks of age a linear vesicular eruption appears on the trunk, followed within weeks by a warty (verrucous) eruption which might persist up to the age of 1 year. The classical lesions of whorled hyperpigmentation occur as a final episode; these may fade in adulthood. 4
1.Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype?. J Child Neurol 2000;15:635-644
2.Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 1988;25:809-818.
3.Traupe H. Functional X chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. Am J Med Genet 1999;85:324-329.
4.Cohen PR. Incontinentia pigmenti: clinicopathologic characteristics and differential diagnosis. Cutis 1994;54:161-166.
Competing interests: No competing interests