{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T18:02:47Z","timestamp":1757700167735},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T00:00:00Z","timestamp":1266796800000},"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":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The term phacomatosis pigmentovascularis (PPV) refers to the occurrence of vascular nevi with melanocytic or epidermal nevi. We report on monozygotic twins (MZTs) discordant for phacomatosis cesioflammea (PPV type II) providing evidence for the mechanism of twin spotting in the development of PPV. The affected twin had a nevus flammeus on the right arm and the right maxilla, and a pigmented area on the trunk in keeping with a persistent, aberrant Mongolian spot. The affected twin had bilateral ocular melanocytosis with abnormal scleral pigmentation, iris mamillations, increased pigmentation of the trabecular meshwork, and increased fundal pigmentation and secondary glaucoma. DNA testing confirmed monozygosity. This case of MZTs discordant for PPV supports the hypothesis that PPV results from mosaicism due to a post\u2010zygotic mutational event and the concept of twin spotting. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33232","type":"journal-article","created":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T22:30:48Z","timestamp":1266877848000},"page":"718-720","source":"Crossref","is-referenced-by-count":12,"title":["Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting"],"prefix":"10.1002","volume":"152A","author":[{"given":"Tanya","family":"Moutray","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Napier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayad","family":"Shafiq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon","family":"Rankin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin E.","family":"Willoughby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,2,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21605.x"},{"key":"e_1_2_4_3_1","first-page":"343","article-title":"Familial cutis tricolor: A possible example of paradominant inheritance","volume":"13","author":"Baba M","year":"2003","journal-title":"Eur J Dermatol"},{"issue":"62","key":"e_1_2_4_4_1","first-page":"91","article-title":"Phacomatosis pigmentovascularis type 2b: a case report","volume":"147","author":"Bhat J","year":"2002","journal-title":"Br J Dermatol"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32417"},{"key":"e_1_2_4_6_1","first-page":"612","article-title":"Paradominant inheritance of twin spotting: Phacomatosis pigmentovascularis as a further possible example","volume":"13","author":"Danarti R","year":"2003","journal-title":"Eur J Dermatol"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.1999.99007.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1993.01680240080011"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202421"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(99)70042-3"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.3.385"},{"key":"e_1_2_4_12_1","first-page":"721","article-title":"Phacomatosis pigmentovascularis interpreted as a phenomenon of twin spots","volume":"40","author":"Happle R","year":"1989","journal-title":"Hautarzt"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1985.01660050103025"},{"key":"e_1_2_4_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_4_15_1","first-page":"1","article-title":"Phacomatosis pigmentovascularis","volume":"57","author":"Ota N","year":"1947","journal-title":"Jpn J Dermatol"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1996.13"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(97)30346-7"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1996.tb01184.x"}],"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.33232","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:24:00Z","timestamp":1697055840000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,22]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1002\/ajmg.a.33232"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33232","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,22]]}}}