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Schreml, Stephan ; Sander, Dorothea ; Schröder, Josef ; Schönbuchner, Ines ; Schreml, Julia ; Karrer, Sigrid ; Berneburg, Mark

Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq

Schreml, Stephan, Sander, Dorothea, Schröder, Josef, Schönbuchner, Ines, Schreml, Julia, Karrer, Sigrid und Berneburg, Mark (2016) Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq. Case Reports in Dermatology 8 (1), S. 19-21.

Veröffentlichungsdatum dieses Volltextes: 18 Feb 2016 16:35
Artikel
DOI zum Zitieren dieses Dokuments: 10.5283/epub.33331


Zusammenfassung

A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from ...

A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from the left palm. Clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of Brocq. We confirmed this genetically and found a heterozygous duplication (c.1752dupT) in the keratin 1 gene (KRT-1). To our knowledge, this is the first case of this skin condition reported in the literature with a heterozygous duplication (c.1752dupT) in KRT-1.



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Details

DokumentenartArtikel
Titel eines Journals oder einer ZeitschriftCase Reports in Dermatology
Verlag:Kagerer
Band:8
Nummer des Zeitschriftenheftes oder des Kapitels:1
Seitenbereich:S. 19-21
Datum30 Januar 2016
InstitutionenMedizin > Lehrstuhl für Dermatologie und Venerologie
Identifikationsnummer
WertTyp
10.1159/000443695DOI
Dewey-Dezimal-Klassifikation600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
StatusVeröffentlicht
BegutachtetJa, diese Version wurde begutachtet
An der Universität Regensburg entstandenJa
URN der UB Regensburgurn:nbn:de:bvb:355-epub-333312
Dokumenten-ID33331

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