Ikonomou Ida Münster, Aamot Hege Vangstein, Heim Sverre, Fosså Alexander, Delabie Jan
Department of Pathology, Rikshospitalet-Radiumhospitalet Medical Center, University of Oslo, Oslo, Norway.
Am J Surg Pathol. 2007 May;31(5):803-6. doi: 10.1097/PAS.0b013e31803071a4.
Granulomatous slack skin is a rare cutaneous T-lymphoproliferative disease characterized by pendulous skin folds. Histology typically reveals a dermal infiltrate of T cells and multinucleated giant cells showing elastophagocytosis. Specific genetic abnormalities have not yet been identified. Currently, granulomatous slack skin is classified according to the World Health Organization classification as a variant of mycosis fungoides although supporting genetic evidence is yet lacking. We present a well-documented case of a 46-year-old man with the typical histologic and clinical findings of granulomatous slack skin. Cytogenetic analysis of a skin biopsy revealed a t(3;9)(q12;p24) as the sole chromosomal abnormality. Fluorescence in situ hybridization analysis did not reveal involvement of the JAK2 gene, located at chromosome band 9p24, and previously shown to be amplified in Hodgkin lymphoma and primary mediastinal diffuse large B-cell lymphoma. Although more cases have to be reported and the putative oncogene involved in the translocation has yet to be identified, the cytogenetic findings are unlike those described for mycosis fungoides and suggests that granulomatous slack skin is a distinct primary cutaneous T-cell lymphoma.
肉芽肿性皮肤松弛症是一种罕见的皮肤T淋巴细胞增殖性疾病，其特征为皮肤褶皱下垂。组织学检查通常显示真皮内有T细胞浸润以及显示弹力纤维吞噬现象的多核巨细胞。尚未发现特定的基因异常。目前，肉芽肿性皮肤松弛症根据世界卫生组织的分类被归类为蕈样肉芽肿的一种变体，尽管仍缺乏支持性的遗传学证据。我们报告一例记录完整的46岁男性病例，其具有肉芽肿性皮肤松弛症典型的组织学和临床特征。对皮肤活检组织进行的细胞遗传学分析显示，唯一的染色体异常为t(3;9)(q12;p24)。荧光原位杂交分析未发现位于9号染色体p24带的JAK2基因受累，该基因先前已证实在霍奇金淋巴瘤和原发性纵隔弥漫性大B细胞淋巴瘤中存在扩增。尽管需要报告更多病例且尚未确定参与易位的推定癌基因，但细胞遗传学结果与蕈样肉芽肿所描述的不同，提示肉芽肿性皮肤松弛症是一种独特的原发性皮肤T细胞淋巴瘤。
