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Our objective was to investigate genotype\u2010phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 pathogenic variants in eight genes, were included in the genotype\u2010phenotype analysis. In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch\u2010like protein 24; CAS was also described in patients with keratins 5\/14 alterations, particularly involving severe phenotypes. In JEB, this is a common clinical sign in JEB with PA associated with premature termination codon variants and\/or amino acid substitutions located in the extracellular domain of integrin \u03b16\u03b24 genes. In DEB with CAS, missense variants occurring close to non\u2010collagenous interruptions of the triple\u2010helix domain of collagen VII appear to influence this condition. This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon.<\/jats:p>","DOI":"10.1111\/cge.13792","type":"journal-article","created":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T10:04:56Z","timestamp":1591524296000},"page":"29-41","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genotype\u2010phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6626-934X","authenticated-orcid":false,"given":"Luiza Monteavaro","family":"Mariath","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana 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