{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T15:18:52Z","timestamp":1713799132471},"reference-count":42,"publisher":"Cambridge University Press (CUP)","issue":"4","license":[{"start":{"date-parts":[[2014,8,1]],"date-time":"2014-08-01T00:00:00Z","timestamp":1406851200000},"content-version":"unspecified","delay-in-days":20028,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta genet. med. gemellol."],"published-print":{"date-parts":[[1959,10]]},"abstract":"<jats:title>SUMMARY<\/jats:title><jats:p>Following some observations on the pathogenesis and clinical manifestations of \u00ab Xeroderma Pigmentosum \u00ab, two histologically ascertained cases are reported, as studied in the dermosyphilopathic Clinic of Berlin's Free University.<\/jats:p><jats:p>In the first case it was possible to prove parental consanguinity, already mentioned by Siemens as proof of irregular recessive inheritance. In the second case the lack of sufficient familial information suggests a non-genetic origin. In both cases it was possible to rol out venereal disease as the causin factor, and the disease appeared only after the third year of age, at 10 years in one case, with onset at the cornea. In the latter case the EEG reveals variations indicating the existence of organic brain disturbances which (associated with the ocular alterations) suggests the occurence of a neuroectodermosis.<\/jats:p><jats:p>In any case it would be wise to warn Xeroderma patients that in the case of consanguineous marriage, there is the danger of the recessive disease (latent in both parents) becoming real; otherwise the physician may, after such a marriage, support the possible request for sterilization on the part of the patient.<\/jats:p>","DOI":"10.1017\/s1120962300018588","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T09:43:53Z","timestamp":1469612633000},"page":"395-408","source":"Crossref","is-referenced-by-count":10,"title":["Xeroderma pigmentosum"],"prefix":"10.1017","volume":"8","author":[{"given":"Harry","family":"Dorn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,8,1]]},"reference":[{"key":"S1120962300018588_ref014","first-page":"150","article-title":"Xeroderma pigmentosum: Jadassohn's","volume":"XIV","author":"Groenouw","year":"1929","journal-title":"Handb. f.H.u.G. Krkh."},{"key":"S1120962300018588_ref017","first-page":"177","article-title":"Genetical studies on skin diseases","volume":"80","author":"Ito","year":"1952","journal-title":"Epheliden and Xeroderma pigmentosum. Krkh."},{"key":"S1120962300018588_ref007","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1001\/archderm.1934.01460110026004","article-title":"Xeroderma pigmentosum","volume":"29","author":"Crauright","year":"1934","journal-title":"Arch. Dermat. Syph."},{"key":"S1120962300018588_ref034","first-page":"234","article-title":"Xeroderma pigmentosum in negro","volume":"69","author":"Obermayer","year":"1954","journal-title":"Arch. Dermat. Syph."},{"key":"S1120962300018588_ref025","first-page":"75","article-title":"Xeroderma pigmentosum","volume":"19","author":"Merenlender","year":"1938","journal-title":"Acta dermat-venereol."},{"key":"S1120962300018588_ref004","first-page":"50","article-title":"Xeroderma pigmentosum","volume":"18","author":"Bruckington","year":"1952","journal-title":"Amer. J. Surg."},{"key":"S1120962300018588_ref038","doi-asserted-by":"publisher","DOI":"10.1007\/BF00477487"},{"key":"S1120962300018588_ref003","first-page":"319","article-title":"Xeroderma pigmentosum y leucodermia cong\u00e8nita","volume":"94","author":"Borda","year":"1956","journal-title":"Zbl. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref010","first-page":"217","article-title":"Das Xeroderma pigmentosum und die xerodermische Idiotie","volume":"124","author":"Elsasser","year":"1949","journal-title":"Allg. Zschr. Psychiatr."},{"key":"S1120962300018588_ref035","first-page":"209","article-title":"Statistische Beobachtungen des Xeroderma pigmentosum","volume":"46","author":"Ogino","year":"1933","journal-title":"Zbl. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref002","first-page":"128","article-title":"Xeroderma pigmentosum","volume":"IV","author":"Bering","year":"1929","journal-title":"Jadassohn's Handb. f.H.u.G. Krkh."},{"key":"S1120962300018588_ref032","doi-asserted-by":"publisher","DOI":"10.1007\/BF00362440"},{"key":"S1120962300018588_ref033","doi-asserted-by":"publisher","DOI":"10.1007\/BF00482485"},{"key":"S1120962300018588_ref030","first-page":"216","article-title":"Beitr\u00e4ge zum Studium des Xeroderma pigmentosum","volume":"42","author":"Nakajima","year":"1932","journal-title":"Zbl. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref006","unstructured":"Corell : Zur Kenntnis des Xeroderma pigmentosum an Erwachsenen. Diss. M\u00fcnster, 1932."},{"key":"S1120962300018588_ref015","first-page":"1952","article-title":"Deux cas de xeroderma pigmentosum am\u00e9lior\u00e9s par la cortisone","volume":"812","author":"Guzman","journal-title":"Presse m\u00e9d."},{"key":"S1120962300018588_ref008","first-page":"448","article-title":"Die xerodermische Idiotie","volume":"43","author":"Sanctis","year":"1933","journal-title":"Zbl. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref041","first-page":"71","article-title":"Heredit\u00e4res sp\u00e4tes Xeroderma pigmentosum","volume":"44","author":"Vilanova","year":"1933","journal-title":"Zbl. f. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref029","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(195403)7:2<377::AID-CNCR2820070224>3.0.CO;2-N"},{"key":"S1120962300018588_ref018","first-page":"532","article-title":"Zur Frage des Xeroderma pigmentosum KAPOSI und dessen Behandlung","volume":"49","author":"Jirmundskaja","year":"1935","journal-title":"Zbl. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref023","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1938.tb10474.x"},{"key":"S1120962300018588_ref040","first-page":"528","article-title":"Betrachtungen \u00fcber einen Fall von Xeroderma pigmentosum","volume":"69","author":"Torchi","year":"1943","journal-title":"Zbl. f. Haut. Geschl. Krkh."},{"key":"S1120962300018588_ref042","first-page":"41","article-title":"Xeroderma pigmentosum mit St\u00f6rungen des ZNS","volume":"83","author":"Yano","year":"1953","journal-title":"Zbl. f. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref013","first-page":"182","article-title":"Xeroderma pigmentosum","volume":"5","author":"Grimmer","year":"1948","journal-title":"Zschr. Haut-Geschl. Krkh."},{"key":"S1120962300018588_ref009","first-page":"253","article-title":"Erbliche Hautleiden und Sterilisation","volume":"18","author":"Dorn","year":"1955","journal-title":"Zschr. Haut-Geschl. 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