The De Barsy syndrome

Journal of Cutaneous Pathology
Deanna GuerraPaola Ferrari

Abstract

In 1968, De Barsy reported on a girl exhibiting an aged aspect, 'dwarfism, oligophrenia, and degeneration of the elastic tissue in cornea and skin'. The disorder was recognized as a subgroup of cutis laxa syndrome and termed De Barsy-Moens-Dierckx syndrome. The pathogenesis of the disorder is unknown. To improve the comprehension of the pathogenetic mechanisms involved in the De Barsy syndrome, we performed an ultrastructural, morphometric, immunocytochemical study on a skin biopsy of a boy with the De Barsy phenotype, who has been clinically followed for 12 years from birth. Moreover, the lysyl oxidase activity was measured on skin fibroblasts cultured in vitro. Light and electron microscopy, morphometry, and immunocytochemical observations showed a significant reduction of the elastic fibers in the papillary and in the reticular dermis of patient compared to an age-matched control (p < 0.05). By contrast, the collagen structure, content, and the distribution were normal, as well as lysyl oxidase activity in the medium of in vitro fibroblasts (12,323 DPM/10(6) cells). The immunoreaction for antibodies recognizing fibrillin-1, neutrophilic elastase, and tumor necrosis factor-alpha was stronger, whereas that for antibodies again...Continue Reading

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Citations

Aug 4, 2009·Nature Genetics·Bruno ReversadeUwe Kornak
Apr 5, 2008·Clinical Dysmorphology·Emma C KivuvaGlenda Sobey
Mar 10, 2016·Indian Journal of Dermatology·Abhijit DuttaSutirtha Roy
Mar 6, 2012·Journal of the American Academy of Dermatology·David R BerkZsolt Urban
Nov 9, 2010·Journal of Clinical Anesthesia·Elisabeth P AponteSteven R Rettke
Nov 5, 2011·American Journal of Medical Genetics. Part a·Dar-Shong LinShuan-Pei Lin
Mar 14, 2012·American Journal of Medical Genetics. Part a·Stefania ZampattiFrancesco Brancati
Aug 14, 2012·American Journal of Medical Genetics. Part a·Mohammed Al-OwainFowzan S Alkuraya
Jan 5, 2011·American Journal of Medical Genetics. Part a·Yeşerin YildirimBeyhan Tüysüz
Sep 16, 2016·Neurogenetics·Rony CohenRachel Straussberg
Feb 24, 2017·Journal of Human Genetics·Priya T BholaDavid A Dyment
Nov 18, 2017·Paediatric Anaesthesia·Lindsay L WarnerHugh M Smith

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