Brinkmeier Thomas, Reuter Thomas, Metze Dieter, Frosch Peter J, Herbst Rudolf A
Department of Dermatology, Klinikum Dortmund GmbH, Germany.
Pediatr Dermatol. 2006 Jan-Feb;23(1):35-8. doi: 10.1111/j.1525-1470.2006.00167.x.
Hemophagocytic lymphohistiocytosis is a rare and potentially fatal syndrome associated with a variety of genetic, malignant, autoimmune, or infectious conditions. The importance of cutaneous presentations of this syndrome has only recently been brought forward. We report the first case of Epstein-Barr-virus-associated hemophagocytic lymphohistiocytosis presenting with papulonodular and granulomatous skin lesions. A girl of African origin developed several umbilicated papules on her extremities and face at the age of 18 months. She was born in Germany, had never visited Africa, and was otherwise healthy. Over the next 5 months the lesions progressed in size and number and became hyperkeratotic. Histopathologic analysis of early lesions revealed a superficial lympho- and plasmacellular dermatitis with some features of panniculitis. Later biopsy specimens from nodular lesions showed the formation of tuberculoid granulomas in the deep dermis. At the age of 23 months she became severely ill, rapidly developing high fever, hepatosplenomegaly, icterus, pancytopenia, and ascites. On the basis of bone marrow and lymph node biopsies, the diagnosis of hemophagocytic lymphohistiocytosis was established. However, this phenomenon could not be detected in any of the skin specimens. An active Epstein-Barr virus infection was diagnosed by polymerase chain reaction in blood, lymphoid tissue, and skin. Despite chemotherapy with etoposide and cortisone, the girl expired 14 days after clinical onset of her systemic disease.
噬血细胞性淋巴组织细胞增生症是一种罕见且可能致命的综合征，与多种遗传、恶性、自身免疫或感染性疾病相关。该综合征皮肤表现的重要性直到最近才被提出。我们报告首例表现为丘疹结节性和肉芽肿性皮肤病变的 Epstein-Barr 病毒相关噬血细胞性淋巴组织细胞增生症。一名非洲裔女孩在 18 个月大时四肢和面部出现了几个脐凹状丘疹。她出生在德国，从未去过非洲，其他方面健康。在接下来的 5 个月里，病变在大小和数量上逐渐发展，并变得角化过度。早期病变的组织病理学分析显示为浅表淋巴细胞和浆细胞性皮炎，伴有一些脂膜炎特征。后来结节性病变的活检标本显示在真皮深层形成了结核样肉芽肿。在 23 个月大时，她病情严重，迅速出现高热、肝脾肿大、黄疸、全血细胞减少和腹水。基于骨髓和淋巴结活检，确诊为噬血细胞性淋巴组织细胞增生症。然而，在任何皮肤标本中均未检测到这种现象。通过聚合酶链反应在血液、淋巴组织和皮肤中诊断出活动性 Epstein-Barr 病毒感染。尽管使用依托泊苷和可的松进行了化疗，该女孩在全身疾病临床发作后 14 天死亡。
