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[一名年轻男性的加德纳-戴蒙德综合征:病例报告及文献综述]

[Gardner-Diamond syndrome in a young man: A case report and literature review].

作者信息

Henneton P, Frank M, Litvinova E, Miranda S, Messas E, Darnige L

机构信息

Centre de référence des maladies vasculaires rares, hôpital européen Georges-Pompidou, AP-HP, 75908 Paris cedex 15, France; Médecine interne et médecine vasculaire, hôpital Saint-Éloi, CHRU de Montpellier, 34295 Montpellier cedex 5, France.

Centre de référence des maladies vasculaires rares, hôpital européen Georges-Pompidou, AP-HP, 75908 Paris cedex 15, France.

出版信息

Rev Med Interne. 2017 Sep;38(9):623-627. doi: 10.1016/j.revmed.2017.01.008. Epub 2017 Mar 28.

Abstract

INTRODUCTION

Gardner-Diamond syndrome is a rare condition secondary to a sensitization to self-erythrocytes. It is predominantly seen in women and presents as a painful ecchymotic disorder. An underlying psychiatric disease or a triggering psychological stress is of important diagnostic value.

CASE REPORT

We report a 24-year-old patient who presented with intermittent spontaneous painful ecchymosis since 5 years. Complementary investigations failed to identify an organic disorder. Gardner-Diamond syndrome was retained because of the clinical presentation, the negativity of diagnostic work-up and the identification of a psychological trauma. Patient management (pain, psychological support) is difficult, justifying a multidisciplinary approach.

CONCLUSION

Gardner-Diamond syndrome is a rare and unrecognized disorder, which should be discussed in the presence of ecchymotic or purpuric lesions that do not have a diagnostic orientation. Early recognition of this disorder enables initiation of an appropriate management, but also limits unnecessary additional explorations.

摘要

引言

加德纳-戴蒙德综合征是一种继发于自身红细胞致敏的罕见病症。主要见于女性,表现为疼痛性瘀斑病症。潜在的精神疾病或引发的心理压力具有重要的诊断价值。

病例报告

我们报告一名24岁患者,自5年前起出现间歇性自发性疼痛性瘀斑。辅助检查未能发现器质性疾病。由于临床表现、诊断检查结果为阴性以及发现心理创伤,故诊断为加德纳-戴蒙德综合征。患者管理(疼痛、心理支持)困难,这证明多学科方法是合理的。

结论

加德纳-戴蒙德综合征是一种罕见且未被认识的病症,在出现无诊断方向的瘀斑或紫癜性病变时应予以讨论。早期识别该病症有助于启动适当的管理,同时也限制了不必要的额外检查。

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