Hoshino Yu, Yoshida Kaoruko, Numata Takafumi, Ito Tomonobu, Egusa Chizu, Maeda Tatsuo, Sakai Noriyasu, Harada Kazutoshi, Okubo Yukari
Department of Dermatology, Tokyo Medical University.
Arerugi. 2022;71(5):397-401. doi: 10.15036/arerugi.71.397.
Cutaneous mastocytosis (CM) usually appears in childhood and improves substantially before adolescence. The c-KIT mutation of D816V is present in 36% and 20% of patients with childhood-onset CM and diffuse cutaneous mastocytosis (DCM), respectively. In some cases of childhood-onset DCM, the disease can progress to systemic mastocytosis; in others, it resolves spontaneously. Thus, assessing the prognosis is difficult. Herein, we described a case of DCM in an 11-month-old, male patient without a c-KIT mutation. The patient presented with dark brown macules and sporadic erythema topped by bullous lesions. A skin biopsy of the macule on the abdomen revealed accumulation of mast cells which were round to oval-shaped with amphophilic cytoplasm within the upper dermis. The patient had received H1 inhibitor until age 3 years and continued to experience blisters on the trunk. However, no severe symptoms, such as anaphylaxis, occurred. Included in this manuscript is a review of previous reports of childhood-onset DCM in Japan and cases specifically seen at our dermatology clinic.
皮肤肥大细胞增多症（CM）通常在儿童期出现，并在青春期前显著改善。D816V的c-KIT突变分别出现在36%的儿童期发病的CM患者和20%的弥漫性皮肤肥大细胞增多症（DCM）患者中。在一些儿童期发病的DCM病例中，疾病可进展为系统性肥大细胞增多症；在其他病例中，疾病可自发缓解。因此，评估预后很困难。在此，我们描述了一例11个月大的男性DCM患者，该患者没有c-KIT突变。患者表现为深褐色斑疹和散在的红斑，上面有大疱性损害。腹部斑疹的皮肤活检显示肥大细胞聚集，这些肥大细胞呈圆形至椭圆形，在上层真皮内有嗜双色性细胞质。该患者在3岁前一直接受H1抑制剂治疗，躯干上仍持续出现水疱。然而，未发生过敏反应等严重症状。本文还回顾了日本既往关于儿童期发病的DCM的报告以及我们皮肤科诊所特别见到的病例。
