{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T02:22:48Z","timestamp":1781490168285,"version":"3.54.1"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Non\u2010syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To determine clinical course and genotype\u2010phenotype correlations in children affected by non\u2010syndromic congenital ichthyosis in a case series from south\u2010western Germany.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective observational study of 32 children affected by non\u2010syndromic congenital ichthyoses seen in our genodermatosis clinic between 2011 and 2020. Follow\u2010ups included assessment of weight and severity of skin involvement utilizing a modified Ichthyosis Area Severity Index (mIASI). mIASI was calculated as a sum comprising the previously published IASI score and an additional novel score to evaluate palmoplantar involvement. Linear regression was assessed using Pearson correlation, and statistical analysis was performed using the Wilcoxon\u2013Mann\u2013Whitney test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This study included 23 patients with autosomal recessive congenital ichthyosis, seven with keratinopathic ichthyosis and two with harlequin ichthyosis. Cutaneous manifestations improved in more than 70% of the children during the follow\u2010up. Especially in patients with mutations in <jats:italic>ALOXE3<\/jats:italic> and <jats:italic>ALOX12B,<\/jats:italic> mIASI scores dropped significantly. The most common phenotype observed in this study was designated \u2032mild fine scaling ichthyosis\u2032. Severe palmoplantar involvement occurred in patients with <jats:italic>KRT1<\/jats:italic> and <jats:italic>ABCA12<\/jats:italic> mutations; most patients demonstrated hyperlinearity as a sign of dryness and scaling. Weight was mainly in the normal range and negatively correlated with the severity of skin involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Congenital ichthyosis that self\u2010improves and evolves with mild fine scaling ichthyosis was the most common phenotype observed in our patients. This type might be underdiagnosed if the genetic diagnosis is not performed in the first year of life. mIASI is an easy and fast instrument for scoring disease severity and adding additional points for palmoplantar involvement might be valuable.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.17524","type":"journal-article","created":{"date-parts":[[2021,7,17]],"date-time":"2021-07-17T17:20:46Z","timestamp":1626542446000},"page":"2293-2299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["High rate of self\u2010improving phenotypes in children with non\u2010syndromic congenital ichthyosis: case series from south\u2010western Germany"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1384-7844","authenticated-orcid":false,"given":"L.","family":"Frommherz","sequence":"first","affiliation":[{"name":"Faculty of Medicine Department of Dermatology Medical Center \u2010 University of Freiburg 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