{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:35Z","timestamp":1789955915837,"version":"4.0.1"},"reference-count":38,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:p>We describe three patients with the cutaneous manifestations of hypomelanosis of Ito. Two, with unusual abnormalities of their toes, had a mixture of diploid and triploid cells in cultured skin fibroblasts. The published clinical descriptions of hypomelanosis of Ito and diploid-triploid mosaicism are reviewed. Chromosome heteromorphisms, HLA types, and DNA fingerprints were studied in an attempt to elucidate the origin of the disease in our patients. We conclude that hypomelanosis of Ito is a manifestation of a heterogeneous group of disorders, the common factor being the presence of two genetically different cell lines. It can result from chromosomal mosaicism or chimerism, from a postzygotic mutation, or from X inactivation. The risk of recurrence is negligible if the proband is a male; if the proband is female the risk is also low but an X linked mutation must be considered.<\/jats:p>","DOI":"10.1136\/jmg.25.12.809","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"809-818","source":"Crossref","is-referenced-by-count":92,"title":["Hypomelanosis of Ito: a manifestation of mosaicism or chimerism."],"prefix":"10.1136","volume":"25","author":[{"given":"D","family":"Donnai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A P","family":"Read","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"McKeown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,12,1]]},"reference":[{"key":"ref_1","first-page":"57","article-title":"Studies on melanin. 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Am J Ophthalmol 1977;84:859-67.","journal-title":"Am J Ophthalmol"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/S0022-3476(77)80636-7","article-title":"Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome","volume":"90","author":"Schwartz, M.F.; Esterly, N.B.; Freyzin, D.F.; Pergament, E.; Rozenfeld, I.H.","year":"1977","unstructured":"Schwartz MF, Esterly NB, Freyzin DF, Pergament E, Rozenfeld IH. Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. J Pediatr 1977;90:236-40.","journal-title":"J Pediatr"},{"key":"ref_29","first-page":"\"103","article-title":"Triploidy in man. Hum Genet","volume":"21","author":"Niebuhr, E.","year":"1974","unstructured":"Niebuhr E. Triploidy in man. Hum Genet 1974;21:103-25. 3\" Jacobs PA, Angell RR, Buchanan IM, Hassold TJ, Matsuyama AM, Manuel B. The origin of human triploids. 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Hypomelanosis of Ito and chromosomal mosaicism in fibroblasts. Lancet 1986;ii:343.","journal-title":"Lancet"},{"key":"ref_36","first-page":"343","article-title":"Hypomelanosis of Ito and chromosomal mosaicism in fibroblasts","volume":"ii:","author":"Thomas, I.T.; Frias, J.L.","year":"1986","unstructured":"Thomas IT, Frias JL. Hypomelanosis of Ito and chromosomal mosaicism in fibroblasts. Lancet 1986;ii:343.","journal-title":"Lancet"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/BF00282090","article-title":"Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15ql","volume":"74","author":"Turleau, C.; Taillard, F.; de Bazigram, M.D.; Delepine, N.; Debois, J.C.; de Grouchy, J.","year":"1986","unstructured":"Turleau C, Taillard F, de Bazigram MD, Delepine N, Debois JC, de Grouchy J. Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15ql. Hum Genet 1986;74:185-7.","journal-title":"Hum Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00289472","article-title":"X-linked dominant inherited diseases with lethality in hemizygous males","volume":"64","author":"Wettke-Schafer, R.; Kantner, G.","year":"1983","unstructured":"Wettke-Schafer R, Kantner G. X-linked dominant inherited diseases with lethality in hemizygous males. 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