P Henneton1, M Frank2, E Litvinova3, S Miranda2, E Messas2, L Darnige4. 1. 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. 2. Centre de référence des maladies vasculaires rares, hôpital européen Georges-Pompidou, AP-HP, 75908 Paris cedex 15, France. 3. Laboratoire d'immunologie, hôpital européen Georges-Pompidou, AP-HP, 75908 Paris cedex 15, France. 4. Service d'hématologie biologique, hôpital européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75908 Paris cedex 15, France. Electronic address: luc.darnige@aphp.fr.
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.
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.