{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:01Z","timestamp":1761717901440},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,2,11]],"date-time":"2003-02-11T00:00:00Z","timestamp":1044921600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The term \u201ccutis tricolor\u201d describes the combination of congenital hyper\u2010 and hypo\u2010pigmented 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\u2010year\u2010old girl with diffuse pigmentary changes of the cutis tricolor type, facial anomalies, mental retardation, epileptic seizures, EEG anomalies, small skull, progressive double\u2010curved 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. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib11\">1997<\/jats:ext-link>: J Med Genet 34:676\u2013678] and Ruggieri [2000: Eur J Pediatr 159:745\u2010749]. Additionally, our patient had altered behavior and hypoplasia of the corpus callosum. This constellation of abnormalities represents 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., generalized skin manifestations of the cutis tricolor type in association to extracutaneous anomalies). Postzygotic recombination occurring later during embryogenesis would give rise to solitary lesions confined to the skin. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20011","type":"journal-article","created":{"date-parts":[[2003,6,4]],"date-time":"2003-06-04T10:07:08Z","timestamp":1054721228000},"page":"110-116","source":"Crossref","is-referenced-by-count":40,"title":["Delineation of a newly recognized neurocutaneous malformation syndrome with \u201ccutis tricolor\u201d"],"prefix":"10.1002","volume":"120A","author":[{"given":"Martino","family":"Ruggieri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Iannetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Pavone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,2,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.1081"},{"key":"e_1_2_5_3_1","first-page":"1237","volume-title":"Textbook of pediatric dermatology","author":"Donnai D","year":"2000"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<334::AID-AJMG4>3.0.CO;2-F"},{"key":"e_1_2_5_5_1","first-page":"170","article-title":"Pigmentary patterns associated with human mosaicism: A proposed classification","volume":"3","author":"Happle R","year":"1993","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1993.01680320094012"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<241::AID-AJMG24>3.0.CO;2-S"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1001\/archderm.1997.03890480025004","article-title":"A rule concerning the segmental manifestations of autosomal dominant skin disorders: Review of clinical examples providing evidence for dichotomous types of severity","volume":"133","author":"Happle R","year":"1997","journal-title":"Arch Dermatol"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(99)70042-3"},{"key":"e_1_2_5_10_1","first-page":"1037","volume-title":"Textbook of pediatric dermatology","author":"Happle R","year":"2000"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2002.tb00204.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.676"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04029.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<355::AID-AJMG9>3.0.CO;2-U"},{"key":"e_1_2_5_15_1","volume-title":"Dermatology and the new genetics","author":"Moss C","year":"1995"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00008339"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380001501001"},{"key":"e_1_2_5_18_1","volume-title":"Genetic skin disorders","author":"Sybert VP","year":"1997"},{"key":"e_1_2_5_19_1","volume-title":"The london dysmorphology database","author":"Winter RM","year":"2001"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20011","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:40:08Z","timestamp":1700170808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2,11]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1002\/ajmg.a.20011"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20011","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2,11]]}}}