[Ehler-Danlos syndrome type VIII].
Identifieur interne : 002C74 ( Ncbi/Merge ); précédent : 002C73; suivant : 002C75[Ehler-Danlos syndrome type VIII].
Auteurs : L. Ciarloni [France] ; C. Perrigouard ; D. Lipsker ; B. CribierSource :
- Annales de dermatologie et de venereologie [ 0151-9638 ] ; 2010.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Syndrome d'Ehlers-Danlos, Syndrome de Marfan.
- étiologie : Bouche édentée, Ulcère de la jambe.
- Adulte, Diagnostic différentiel, Humains, Mâle, Syndrome d'Ehlers-Danlos.
English descriptors
- KwdEn :
- MESH :
- classification : Ehlers-Danlos Syndrome.
- diagnosis : Ehlers-Danlos Syndrome, Marfan Syndrome.
- etiology : Leg Ulcer, Mouth, Edentulous.
- Adult, Diagnosis, Differential, Humans, Male.
Abstract
Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late.
DOI: 10.1016/j.annder.2009.11.009
PubMed: 20227561
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pubmed:20227561Le document en format XML
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<term>Ehlers-Danlos Syndrome (diagnosis)</term>
<term>Humans</term>
<term>Leg Ulcer (etiology)</term>
<term>Male</term>
<term>Marfan Syndrome (diagnosis)</term>
<term>Mouth, Edentulous (etiology)</term>
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<term>Bouche édentée (étiologie)</term>
<term>Diagnostic différentiel</term>
<term>Humains</term>
<term>Mâle</term>
<term>Syndrome d'Ehlers-Danlos ()</term>
<term>Syndrome d'Ehlers-Danlos (diagnostic)</term>
<term>Syndrome de Marfan (diagnostic)</term>
<term>Ulcère de la jambe (étiologie)</term>
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<front><div type="abstract" xml:lang="en">Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late.</div>
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<Title>Annales de dermatologie et de venereologie</Title>
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<ArticleTitle>[Ehler-Danlos syndrome type VIII].</ArticleTitle>
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<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late.</AbstractText>
<AbstractText Label="CASE REPORT" NlmCategory="METHODS">A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII.</AbstractText>
<AbstractText Label="DISCUSSION" NlmCategory="CONCLUSIONS">Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded.</AbstractText>
<CopyrightInformation>Copyright 2009 Elsevier Masson SAS. All rights reserved.</CopyrightInformation>
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