{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T05:23:25Z","timestamp":1697693005223},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,1,13]],"date-time":"2012-01-13T00:00:00Z","timestamp":1326412800000},"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":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The term \u201cphacomatosis\u201d refers to a growing number of sporadic genetic skin disorders characterized by the combination of two or more different nevi and possibly resulting from non\u2010allelic twin spotting. While phacomatosis pigmentovascularis (PPV) and pigmentokeratotica represent the most common patterns, some patients do not fit with either condition and are temporarily classified as unique phenotypes. We report on an 8\u2010year\u2010old boy with striking right hemihypoplasia, resulting in limb asymmetry and fixed dislocation of right hip. Skin on the affected side showed three distinct nevi: (i) A whorled, hairless nevus of the scalp in close proximity with (ii) epidermal hyperpigmentation following lines of Blaschko on the neck and right upper limb, and (iii) multiple telangiectatic nevi of the right lower limb and hemiscrotum. Didymosis atricho\u2010melanotica was proposed for the combination of adjacent patchy congenital alopecia and linear hyperpigmentation, while phacomatosis atricho\u2010pigmento\u2010vascularis appears to define the entire cutaneous phenotype, thus implying the involvement of three neighboring loci influencing the development of distinct constituents of the skin. Given the striking asymmetry of the observed phenotype, the effect of mosaicism (either genomic or functional) for a mutation in a single gene with pleiotropic action and influenced by the lateralization pattern of early development cannot be excluded. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34403","type":"journal-article","created":{"date-parts":[[2012,1,13]],"date-time":"2012-01-13T20:14:55Z","timestamp":1326485695000},"page":"445-449","source":"Crossref","is-referenced-by-count":0,"title":["Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the \u201cphacomatosis complex\u201d"],"prefix":"10.1002","volume":"158A","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oronzo","family":"Scarciolla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Morlino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liborio","family":"Manente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Assunta","family":"Biscaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Fragasso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,1,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32591"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32165"},{"key":"e_1_2_5_4_1","first-page":"231","article-title":"Phacomatosis pigmentovasculosebacea: An unusual case of phacomatosis multiplex","volume":"13","author":"Chen W","year":"2003","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000098571"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000051791"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(97)00298-4"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1218(89)90112-2"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/em.2860060206"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01929364"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560326"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.3.385"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.07.035"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1684\/ejd.2011.1331","article-title":"Didymosis cesioanemica: An unusual counterpart of phacomatosis cesioflammea","volume":"21","author":"Happle R","year":"2011","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2001.112386"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.676"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000051645"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)90209-N"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/hdy.1977.22"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1104017"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/21.6.625"},{"key":"e_1_2_5_22_1","first-page":"21","article-title":"Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea)","volume":"13","author":"Tinschert S","year":"2003","journal-title":"Eur J Dermatol"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.22305.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1093\/genetics\/73.4.583","article-title":"Somatic crossing over in Glycine max (L.) 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