{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:23:59Z","timestamp":1787772239418,"version":"build-2784847793"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature. There is scanty epidemiologic data regarding the clinical profile and histologic patterns of inherited ichthyosis from resource-poor countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims and Objectives:<\/jats:title>\n                    <jats:p>The study was aimed at assessing the clinic-epidemiologic characteristics associated with the different forms of non-syndromic congenital ichthyosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>This was a retrospective chart review of ichthyosis patients that presented between July 2016 and Jun 2020. Details including demographic profile, clinical characteristics along with any relevant investigations done were included.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>During the study period of 4 years, 107 patients with congenital non-syndromic ichthyosis were seen. The most frequent diagnosis was of common ichthyoses, followed by autosomal recessive congenital ichthyosis, epidermolytic ichthyosis and erythrokeratoderma, in decreasing order.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Important clinical findings like erythema and the type of scales as well as histological differences including an absent or reduced granular layer in ichthyosis vulgaris can help differentiate among the clinical phenotypes of inherited non-syndromic ichthyosis especially in resource-poor settings. Also, there is a high prevalence of vitamin D deficiency and hence a need for screening for the same in all patients of congenital ichthyosis including the milder phenotypes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijd.ijd_412_23","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T10:01:17Z","timestamp":1714384877000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis \u2013 A Retrospective Chart Review of 107 Patients"],"prefix":"10.4103","author":[{"given":"Rahul","family":"Mahajan","sequence":"first","affiliation":[{"name":"From the Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirin","family":"Bakshi","sequence":"additional","affiliation":[{"name":"From the Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debajyoti","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipankar","family":"De","sequence":"additional","affiliation":[{"name":"From the Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma N.","family":"Saikia","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev","family":"Handa","sequence":"additional","affiliation":[{"name":"From the Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,3,20]]},"reference":[{"key":"R1-20240829","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s40257-017-0313-x","article-title":"Inherited nonsyndromic ichthyoses:An update on pathophysiology, diagnosis and treatment","volume":"19","author":"Vahlquist","year":"2018","journal-title":"Am J Clin Dermatol"},{"key":"R2-20240829","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited 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Leprol"},{"key":"R9-20240829","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s00403-022-02399-z","article-title":"A cross-sectional study to find association of VDR gene polymorphism with non-syndromic congenital ichthyosis and with vitamin D deficiency","volume":"315","author":"Kaushik","year":"2023","journal-title":"Arch Dermatol Res"},{"key":"R10-20240829","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.jaad.2015.12.027","article-title":"Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation:A report from the national registry for ichthyosis and related skin disorders","volume":"74","author":"Yang","year":"2016","journal-title":"J Am Acad Dermatol"},{"key":"R11-20240829","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13023-016-0384-4","article-title":"Role of molecular testing in the multidisciplinary diagnostic approach of 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