Literature DB >> 18474464

Sneddon syndrome and the diagnostic value of skin biopsies - three young patients with intracerebral lesions and livedo racemosa.

Catharina M Legierse1, Marijke R Canninga-Van Dijk, Carla A F M Bruijnzeel-Koomen, Veronica C M Kuck-Koot.   

Abstract

Sneddon syndrome is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, vertigo, transient ischaemic attacks (TIA), stroke, and seizures. Diagnosis of Sneddon syndrome is based on these clinical features and positive findings in skin biopsies, namely the histological proof of occlusion of arterioles by intimal proliferation. We describe three cases of young patients with clinical characteristics of Sneddon syndrome, but in only two cases could this diagnosis be confirmed by skin biopsies. These cases stress the difficulty of diagnosing Sneddon syndrome and show the additive value of skin biopsies in this process.

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Year:  2008        PMID: 18474464     DOI: 10.1684/ejd.2008.0397

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN: 1167-1122            Impact factor:   3.328


  3 in total

1.  Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series.

Authors:  Bruno Law-Ye; Guillaume Saliou; Frédérique Toulgoat; Marc Tardieu; Kumaran Deiva; Catherine Adamsbaum; Béatrice Husson
Journal:  Eur Radiol       Date:  2015-11-28       Impact factor: 5.315

Review 2.  The Relevance of Skin Biopsies in General Internal Medicine: Facts and Myths.

Authors:  Sophie Bailleux; Patrick Collins; Arjen F Nikkels
Journal:  Dermatol Ther (Heidelb)       Date:  2022-04-17

3.  A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.

Authors:  Elli Katharine Greisenegger; Sara Llufriu; Angel Chamorro; Alvaro Cervera; Adriano Jimenez-Escrig; Klemens Rappersberger; Wolfgang Marik; Stefan Greisenegger; Elisabeth Stögmann; Tamara Kopp; Tim M Strom; Jörg Henes; Anne Joutel; Alexander Zimprich
Journal:  J Neurol       Date:  2020-09-26       Impact factor: 4.849

  3 in total

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