X-linked recessive ichthyosis vulgaris: Rapid identification by lipoprotein electrophoresis

1983 ◽  
Vol 275 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Heiko Traupe ◽  
Peter Michael K�vary ◽  
Hilko Schriewer
1982 ◽  
Vol 60 (2) ◽  
pp. 206-206 ◽  
Author(s):  
H. Traupe ◽  
H. H. Ropers

2018 ◽  
Vol 23 ◽  
pp. 244-248 ◽  
Author(s):  
O. M. Fedota ◽  
Yu. O. Sadovnychenko ◽  
L. V. Roshchenyuk ◽  
V. M. Vorontsov ◽  
P. P. Ryzhko

Ichthyosis is genetically and clinically heterogenic group of epidermis keratinization disorders. Its prevalence is geographically different. Aim. The aim of this research was to evaluate ichthyosis prevalence in Kharkiv region. Methods. The collection of clinical-genealogical history was carried out by the method of single registration of the proband on the basis of the Regional Clinical Dermatological and Venereological Health Center No. 1 and the Dermatovenerological Health Centers of the Kharkiv Region in 2017. Results. The ichthyosis prevalence in Kharkiv region was 2.5·10–4 in 2017. The ichthyosis prevalence varied from 6.7∙10‑5 in Krasnohrad district to 1.0∙10‑3 in Dvorichna district. The least prevalence was in the population of Vovchansk city (1.1∙10‑4) and the highest one was in the population of Dvorichna city (10.7∙10‑4). The differences between the prevalence of ichthyosis vulgaris in Kharkiv region in 2008-2017 were established. Conclusions. It was found that the decrease of ichthyosis prevalence in Kharkiv region was 1.6 times during last 10 years. This index for ichthyosis vulgaris was decreased 1.9 times at the same period. Monogenic dermatoses, as an example of ichthyosis, can be used both to monitor the burden of genetic disorders in the region and to solve the problems of general and personal genetic safety in the population. Keywords: ichthyosis vulgaris, X-linked recessive ichthyosis, prevalence.


VASA ◽  
2019 ◽  
Vol 48 (1) ◽  
pp. 35-46
Author(s):  
Stephen Hofmeister ◽  
Matthew B. Thomas ◽  
Joseph Paulisin ◽  
Nicolas J. Mouawad

Abstract. The management of vascular emergencies is dependent on rapid identification and confirmation of the diagnosis with concurrent patient stabilization prior to immediate transfer to the operating suite. A variety of technological advances in diagnostic imaging as well as the advent of minimally invasive endovascular interventions have shifted the contemporary treatment algorithms of such pathologies. This review provides a comprehensive discussion on the current state and future trends in the management of ruptured abdominal aortic aneurysms as well as acute aortic dissections.


2007 ◽  
Vol 7 (05) ◽  
pp. 247-256
Author(s):  
Heiko Traupe ◽  
Vinzenz Oji

ZusammenfassungIchthyosen umfassen eine ätiologisch heterogene Gruppe von Verhornungsstörungen, die die gesamte Haut betreffen und durch sichtbare Schuppung und Verdickung der Hornhaut charakterisiert sind. Häufig besteht zusätzlich ein Erythem. Neben der Unterteilung in kongenital und nicht-kongenital unterscheidet man isolierte Ichthyosen, wie die X-chromosomal rezessive Ichthyose oder lamelläre Ichthyose, von Ichthyose-Syndromen, wie das Comèl-Netherton- oder Sjögren-Larsson-Syndrom. Kongenitale Ichthyosen sind selten und manifestieren sich unter dem Bild eines Kollodiumbabys oder als kongenitale ichthyosiforme Erythrodermie. In den letzten Jahren wurden erneut wichtige Meilensteine der Ichthyoseforschung passiert, z. B. die molekulargenetische Aufklärung der Harlekin-Ichthyose und Ichthyosis vulgaris. Trotz meist fehlender kausaler Therapiemöglichkeit stellt die verbesserte Diagnostik einen großen Gewinn für Betroffene dar. Darüber hinaus existieren mannigfache symptomatische Therapieoptionen. Hilfreiche Organisationen in Deutschland stellen die Selbsthilfe Ichthyose e. V. (www.ichthyose.de) und das Netzwerk für Ichthyose und verwandte Verhornungsstörungen (NIRK) (www.netzwerk-ichthyose.de) dar.


Author(s):  
S.S. Amelina ◽  
◽  
E.V. Degtereva ◽  
N.V. Petrova ◽  
A.V. Marakhonov ◽  
...  

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