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Karger AG","issue":"2","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in &lt;i&gt;COL7A1&lt;\/i&gt; were demonstrated.<\/jats:p>","DOI":"10.1159\/000313507","type":"journal-article","created":{"date-parts":[[2010,6,4]],"date-time":"2010-06-04T07:34:21Z","timestamp":1275636861000},"page":"113-116","source":"Crossref","is-referenced-by-count":10,"title":["X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same 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