Wakabayashi Nao, Tosa Mamiko, Anzai Shinichi, Ogawa Rei
Department of Plastic, Reconstructive and Aesthetic Surgery, Nippon Medical School, Tokyo, Japan; Department of Plastic and Reconstructive Surgery, Nippon Medical School, Musashi Kosugi Hospital, Kanagawa, Japan; and Division of Dermatology and Dermatopathology, Nippon Medical School, Musashi Kosugi Hospital, Kanagawa, Japan.
Plast Reconstr Surg Glob Open. 2018 Mar 13;6(3):e1676. doi: 10.1097/GOX.0000000000001676. eCollection 2018 Mar.
We encountered a case of a man who was diagnosed with severe congenital neutropenia as a child and presented at the age of 45 years with pyoderma gangrenosum (PG) of the lower leg. PG associates with an underlying systemic disease, most commonly inflammatory bowel, rheumatic, or hematological disease or malignancy. However, in many cases, the underlying disease was not known. Surgery can trigger PG. The histopathological features of PG were nonspecific, and diagnosis requires excluding other conditions that have a similar appearance. Our analyses showed that the PG in our case was secondary to severe congenital neutropenia, which had promoted an infection of keratinous cysts. The patient bore a mutation in the ELANE gene encoding neutrophil elastase. Only 1 other case of neutropenia-associated PG has been reported previously: the association was only suspected. The present complex case was effectively treated by systemic treatment of the neutropenia with granulocyte colony-stimulating factor and regional surgical treatment. Histology of the excised tissue revealed keratinous cysts that were diffusely distributed with inflammatory granulation tissue. We believe that the rupture of the walls of the keratinous cysts may have caused the PG. At the time of writing (3 years since the initial presentation), the PG has not recurred. This case shows the importance of performing detailed examinations, including blood tests, to determine the disease underlying PG. This was because if the underlying disease was identified, its treatment was likely to promote healing of the wound after local surgery and prevent recurrence.
我们遇到一例男性患者，他自幼被诊断为严重先天性中性粒细胞减少症，45岁时出现小腿坏疽性脓皮病（PG）。PG与潜在的全身性疾病相关，最常见的是炎症性肠病、风湿性疾病、血液系统疾病或恶性肿瘤。然而，在许多病例中，潜在疾病并不明确。手术可引发PG。PG的组织病理学特征不具有特异性，诊断需要排除其他外观相似的病症。我们的分析显示，本例中的PG继发于严重先天性中性粒细胞减少症，后者促成了角质囊肿感染。该患者在编码中性粒细胞弹性蛋白酶的ELANE基因上存在突变。此前仅报道过1例与中性粒细胞减少相关的PG病例：当时只是怀疑存在这种关联。通过用粒细胞集落刺激因子对中性粒细胞减少症进行全身治疗以及局部手术治疗，有效治愈了该例复杂病例。切除组织的组织学检查显示角质囊肿弥漫分布并伴有炎性肉芽组织。我们认为角质囊肿壁破裂可能导致了PG。在撰写本文时（首次就诊后3年），PG未复发。该病例表明进行包括血液检查在内的详细检查以确定PG潜在疾病的重要性。这是因为如果确定了潜在疾病，其治疗可能会促进局部手术后伤口愈合并防止复发。
