Department of Dermatology, Medical University of Graz, Graz, Austria.
Dermatology. 2013;227(1):67-71. doi: 10.1159/000351807. Epub 2013 Aug 31.
Hypereosinophilic syndrome (HES) is defined as a high eosinophilic granulocyte count in peripheral blood and other tissues. It can be associated with clonal and non-clonal haematological neoplastic diseases.
Here we present a patient with a 27-year history of pruritus, urticarial lesions, recurrent diarrhoea, depression and a monoclonal gammopathy in the setting of HES.
The patient presented with erythemas, disseminated plaques, papules and scaling. Eosinophils continuously increased from 14% in 2002 to 65% in 2011. Tryptase levels were >20 µg/l. Skin biopsies were unspecific. In the bone marrow biopsy 30% of eosinophilic differentiated precursors and 10% plasma cells were noticed. Skin and bone marrow initially not indicative for mast cell proliferation were investigated for clonal mast cell proliferation. By immunostaining, single tryptase-, CD117c- and CD25-positive mast cells were detected not only in bone marrow, but also in the skin. Molecular investigations revealed a D816V exon 17 mutation of the c-KIT gene in bone marrow and skin biopsies.
In this patient HES was associated with high tryptase levels with 2 underlying clonal cell populations - IgGκ-positive plasma cells and single clonal mast cells with a high percentage of eosinophils in the bone marrow with symptoms of a clonal mast cell activation syndrome. Because of 3 minor criteria the patient finally fulfilled the criteria for systemic mastocytosis (according to the WHO). Patients with high tryptase levels and symptoms of mast cell activation syndrome should be investigated for clonal mast cell disease even in the absence of increased mast cells in the skin and bone marrow.
嗜酸性粒细胞增多综合征（HES）定义为外周血和其他组织中嗜酸性粒细胞计数升高。它可能与克隆和非克隆血液系统肿瘤性疾病相关。
本文报道了 1 例 HES 患者，其病史长达 27 年，表现为瘙痒、荨麻疹性皮损、复发性腹泻、抑郁和单克隆丙种球蛋白血症。
患者表现为红斑、弥漫性斑块、丘疹和鳞屑。嗜酸性粒细胞持续从 2002 年的 14%增加到 2011 年的 65%。类胰蛋白酶水平>20μg/L。皮肤活检无特异性。骨髓活检中发现 30%的嗜酸性粒细胞分化前体细胞和 10%的浆细胞。最初皮肤和骨髓未提示肥大细胞增殖，进行了克隆性肥大细胞增殖检查。免疫组化显示，不仅在骨髓，而且在皮肤中均检测到单个类胰蛋白酶阳性、CD117c 阳性和 CD25 阳性的肥大细胞。分子研究显示，c-KIT 基因外显子 17 的 D816V 突变存在于骨髓和皮肤活检中。
本例 HES 与高类胰蛋白酶水平相关，存在 2 种潜在的克隆细胞群 - IgGκ 阳性浆细胞和骨髓中具有高比例嗜酸性粒细胞的单个克隆肥大细胞，伴有克隆性肥大细胞激活综合征的症状。由于存在 3 项次要标准，该患者最终符合系统性肥大细胞增多症（根据 WHO 标准）的诊断。高类胰蛋白酶水平且有肥大细胞激活综合征症状的患者即使皮肤和骨髓中未增加肥大细胞，也应检查是否存在克隆性肥大细胞疾病。
