{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T03:16:17Z","timestamp":1771298177171,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2013,8,7]],"date-time":"2013-08-07T00:00:00Z","timestamp":1375833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"},{"start":{"date-parts":[[2013,8,7]],"date-time":"2013-08-07T00:00:00Z","timestamp":1375833600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Dermatol"],"abstract":"<jats:p>The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous &lt;i&gt;TGM5 &lt;\/i&gt;mutations: c.2T&gt;C, p.M1T in exon 1 and c.337G&gt;T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.<\/jats:p>","DOI":"10.1159\/000354572","type":"journal-article","created":{"date-parts":[[2017,4,18]],"date-time":"2017-04-18T21:43:22Z","timestamp":1492551802000},"page":"210-214","source":"Crossref","is-referenced-by-count":4,"title":["Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy"],"prefix":"10.1159","volume":"5","author":[{"given":"S.","family":"Kavaklieva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Yordanova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Bruckner-Tuderman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Has","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,8,7]]},"container-title":["Case Reports in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354572","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:46:44Z","timestamp":1745434004000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000354572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,7]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2013,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000354572","archive":["Portico"],"relation":{},"ISSN":["1662-6567"],"issn-type":[{"value":"1662-6567","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,7]]}}}