{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T19:10:01Z","timestamp":1700161801848},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,2,7]],"date-time":"2003-02-07T00:00:00Z","timestamp":1044576000000},"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":[[2003,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heritable disorders of cornification form a large, clinically and genetically heterogeneous group. Recent advances in molecular genetics provide for the first time the opportunity to reliably classify some of these disorders based on their underlying etiology. Many rare phenotypes, however, still remain unclassified and do not fit into established classification schemes. We report here a 12\u2010year\u2010old girl who developed an ichthyosis vulgaris\u2010like skin disorder 6 months after birth. Several years later, the clinical features had changed considerably. The patient had developed streaks of hyperkeratotic, slightly scaling skin with underlying erythema distributed in a reticulate, occasionally annular pattern on the trunk and extremities. The lesions were stable and had not changed significantly in size or distribution over the ensuing years. Histopathologic and ultrastructural findings were nonspecific and there was no evidence for metabolic disorders. The partial clinical overlap with erythrokeratodermia variabilis prompted us to screen several connexin genes but no pathogenic mutations were identified. We believe that this disorder belongs to the group of erythrokeratodermas and represents a novel, previously unrecognized entity. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20036","type":"journal-article","created":{"date-parts":[[2003,6,24]],"date-time":"2003-06-24T10:15:25Z","timestamp":1056449725000},"page":"237-240","source":"Crossref","is-referenced-by-count":9,"title":["Reticular erythrokeratoderma: A new disorder of cornification"],"prefix":"10.1002","volume":"120A","author":[{"given":"Peter H.","family":"Itin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Moschopulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,2,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02521.x"},{"key":"e_1_2_6_3_1","first-page":"675","article-title":"Ichthyose en confettis","volume":"111","author":"Camenzind M","year":"1984","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1972.01620110019005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1311"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(97)80246-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2001.114293"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/515518"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2000.03902.x"},{"key":"e_1_2_6_10_1","unstructured":"ItinPH RufliT SchnyderUW SalomonD.2002.The natural course of ichthyosiform erythroderma with perinuclear shells documents the identity with ichthyosis en confettis and congenital reticular erythroderma. Report of a case and further delineation of the clinical spectrum (in preparation)."},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000252538"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000247351"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62957-7"},{"key":"e_1_2_6_14_1","first-page":"522","article-title":"Kongenitale retikul\u00e4re ichthyosiforme erythrodermie","volume":"35","author":"Marghescu S","year":"1984","journal-title":"Hautarzt"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000246544"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.1999.00446.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/3840"},{"key":"e_1_2_6_18_1","article-title":"Genetic heterogeneity in erythrokeratodermia variabilis: New mutations in the connexin gene GJB4 (Cx30.3) and genotype\u2013phenotype correlations","author":"Richard G","year":"2002","journal-title":"J Invest Dermatol"},{"key":"e_1_2_6_19_1","first-page":"442","article-title":"Nichtbull\u00f6se erythrodermie (congenitale) ichthyosiforme mit perinukle\u00e4ren schalen","volume":"41","author":"Rufli T","year":"1990","journal-title":"Hautarzt"},{"key":"e_1_2_6_20_1","first-page":"634","article-title":"Erythrokeratodermia anularis migrans\u2014eine neue genodermatose?","volume":"42","author":"Vakilzadeh F","year":"1991","journal-title":"Hautarzt"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200417"}],"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.20036","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:46:51Z","timestamp":1700160411000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2,7]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,7,15]]}},"alternative-id":["10.1002\/ajmg.a.20036"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20036","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2,7]]}}}