Pasqualini Claudia, Jorini Mauro, Carloni Ines, Giangiacomi Mirella, Cetica Valentina, Aricò Maurizio, de Benedictis Fernando Maria
Department of Mother and Child Health, Azienda Ospedaliero-Universitaria, Ancona, Italy.
Ital J Pediatr. 2014 Feb 13;40(1):17. doi: 10.1186/1824-7288-40-17.
Cytophagic histiocytic panniculitis is a rare disease, associated with either nonmalignant conditions or subcutaneous panniculitis-like T-cell lymphoma, and often also associated with hemophagocytic lymphohistiocytosis (HLH). We report the case of a 11-year-old boy with a history of secondary HLH who, after a local trauma, developed a painful, indurated plaque over the right thigh associated with relapsing HLH. Histopathologic findings from skin biopsy specimens revealed significant lobular panniculitis with benign histiocytes showing hemophagocytosis. High-dose intravenous methylprednisolone and cyclosporine A treatment was highly effective. A genetic study after a new, relapsing episode of HLH revealed an heterozygous missense mutation on STX 11 gene inherited from the mother.
噬血细胞性组织细胞性脂膜炎是一种罕见疾病,与非恶性疾病或皮下脂膜炎样T细胞淋巴瘤相关,且常与噬血细胞性淋巴组织细胞增生症(HLH)相关。我们报告了一名11岁有继发性HLH病史的男孩病例,该男孩在局部创伤后,右大腿出现疼痛性硬结斑块,并伴有HLH复发。皮肤活检标本的组织病理学检查结果显示有明显的小叶性脂膜炎,良性组织细胞呈现噬血现象。大剂量静脉注射甲基强的松龙和环孢素A治疗效果显著。在HLH再次复发后进行的基因研究发现,该男孩从母亲那里遗传了STX 11基因的杂合错义突变。