Daou Hala, Hatch Leigh A, Weinkle Allison, Morey Gabriel Eli, Messina Jane, Zhang Xiaohui, Sokol Lubomir, Seminario-Vidal Lucia
Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
Department of Dermatology, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.
J Cutan Pathol. 2021 Apr;48(4):567-571. doi: 10.1111/cup.13860. Epub 2020 Sep 30.
Patients with primary immunodeficiency are at increased risk for malignancy, especially hematologic neoplasms. This paper reports a unique case of a 47-year-old man with X-linked agammaglobulinemia who presented with progressive asymptomatic violaceous papules and plaques on his face, hands, and trunk for 1 year. Skin biopsies revealed deep, nodular infiltrates of histiocytes and CD8-positive lymphocytes, with a CD4:CD8 ratio of 1:10. Laboratory studies showed cytopenias. Flow cytometry in the skin, blood, and bone marrow (BM) showed a CD3+/CD8+/CD57+ large granular lymphocyte population. BM biopsy showed 30% involvement with these atypical T-cells. T-cell gene rearrangement studies of skin, blood, and BM revealed identical T-cell clones. He was diagnosed with T-large granular lymphocyte leukemia (T-LGLL) with an associated CD8+ cutaneous lymphoproliferation. Skin involvement was suspected to represent infiltration by T-LGLL. However, co-existence of two lymphoproliferative disorders (LPDs), T-LGLL and CD8+ granulomatous LPD, remains a possibility. In general, cutaneous infiltrates associated with LGLL are rare and poorly understood. It has been suggested that they are markers of poor prognosis. Our case report describes skin, blood, and BM findings in an immunosuppressed patient with T-LGLL in detail. These findings have not yet been reported and their significance requires further investigation.
原发性免疫缺陷患者发生恶性肿瘤的风险增加，尤其是血液系统肿瘤。本文报告了一例独特病例，一名47岁患有X连锁无丙种球蛋白血症的男性，面部、手部和躯干出现进行性无症状紫罗兰色丘疹和斑块1年。皮肤活检显示组织细胞和CD8阳性淋巴细胞的深部结节性浸润，CD4:CD8比例为1:10。实验室检查显示血细胞减少。皮肤、血液和骨髓的流式细胞术显示CD3+/CD8+/CD57+大颗粒淋巴细胞群。骨髓活检显示30%被这些非典型T细胞累及。皮肤、血液和骨髓的T细胞基因重排研究显示T细胞克隆相同。他被诊断为T大颗粒淋巴细胞白血病（T-LGLL）伴相关的CD8+皮肤淋巴细胞增殖。皮肤受累怀疑是T-LGLL浸润所致。然而，两种淋巴细胞增殖性疾病（LPD），即T-LGLL和CD8+肉芽肿性LPD并存仍有可能。一般来说，与LGLL相关的皮肤浸润很少见且了解甚少。有人认为它们是预后不良的标志。我们的病例报告详细描述了一名患有T-LGLL的免疫抑制患者的皮肤、血液和骨髓检查结果。这些结果尚未见报道，其意义需要进一步研究。
