{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:36:24Z","timestamp":1780623384265,"version":"3.54.1"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,11,7]],"date-time":"2021-11-07T00:00:00Z","timestamp":1636243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X\u2010linked alpha\u2010galactosidase A [GLA] deficiency). However, other lysosomal storage diseases (LSDs) have also been identified as triggers of ACD. Generalized vasculopathy is an important pathogenetic factor in FD and may also lead to the acroparesthesia (AP) often predominant in FD. We report on an 85\u2010year\u2010old woman with ACD present since her youth and associated with severe AP. Ultrastructure of the dermal lesion showed no lysosomal involvement, but the absence of the basement membrane of the endothelial cells of the capillary vessels was noteworthy. Repeated analyses of the<jats:italic>GLA<\/jats:italic>gene revealed no evidence of FD. Whole\u2010exome sequencing was negative for FD and other LSDs, and allowed us to also study FD\u2010related intronic regions of the<jats:italic>GLA<\/jats:italic>gene. This is the first report of a patient with FD\u2010like ACD with an endothelial abnormality, otherwise unexplained vasculopathy and severe AP, which are not due to FD or another LSD. Based on family history, another genetic, yet unidentified, defect may cause the disease in this patient. In unexplained ACD, extended genetic analysis is required to exclude particular pathogenic variants of the<jats:italic>GLA<\/jats:italic>gene and other genes.<\/jats:p>","DOI":"10.1111\/cup.14154","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T06:50:10Z","timestamp":1634799010000},"page":"293-298","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9146-8597","authenticated-orcid":false,"given":"Klaus","family":"Harzer","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics University Children's Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Beck\u2010W\u00f6dl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,7]]},"reference":[{"issue":"12","key":"e_1_2_10_2_1","first-page":"1440","article-title":"Fabry disease\u2014a study of 6 hemizygous men and 5 heterozygous women with emphasis on dermatologic manifestations","volume":"140","author":"Larralde M","year":"2005","journal-title":"Arch Dermatol"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2009.01.003"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.2174\/13816128113199990352"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.142.5.615"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.14330"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781119371571.ch6"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0166484"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.10.004"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0180581"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.10.007"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvq333"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.113.302200"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S247814"},{"issue":"443","key":"e_1_2_10_15_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1651-2227.2003.tb00222.x","article-title":"Sequelae of storage in Fabry disease\u2014pathology and comparison with other lysosomal storage diseases","volume":"92","author":"Elleder M","year":"2003","journal-title":"Acta Paediatr Suppl"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-016-0549-8"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-016-0590-7"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09262-8"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12863-015-0267-z"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2261-12-39"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.109"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0178-5"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5512.487"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.2011.01733.x"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12461306"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00048.2016"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8091109"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1006\/mvre.2001.2380"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00186.2002"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/179784"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.12801"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.14154","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cup.14154","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.14154","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T13:33:41Z","timestamp":1699709621000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.14154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,7]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1111\/cup.14154"],"URL":"https:\/\/doi.org\/10.1111\/cup.14154","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"value":"0303-6987","type":"print"},{"value":"1600-0560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,7]]},"assertion":[{"value":"2021-05-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}