Yilmaz Kutluhan, Inalöz H Serhat, Unal Bünyamin, Güler Elif
Department of Pediatrics, Medical Faculty, Gaziantep University, Cocok Sağ. ve Hast. AD, Kolejtepe, Gaziantep, Turkey.
Int J Dermatol. 2002 Mar;41(3):170-2. doi: 10.1046/j.1365-4362.2002.01373_3.x.
A 3-year-old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively. Physical examination (Fig. 1) revealed hypopigmented, atrophic, and hyperkeratotic skin lesions surrounded by reticulate hyperpigmentation on the entire body, predominantly on the face, neck, arms, shoulders, and legs, which had been noticed initially at the age of 18 months. Dystrophic toenails, sparse and thin hair, and phimosis were also observed. Laboratory tests disclosed an isolated neutropenia (white blood cell count, 1800/mm3). Bone marrow (BM) aspiration showed a decreased myelopoiesis without myelodysplastic changes, but normal erythropoiesis, megakaryopoiesis, and normal stroma. Lymphocyte subgroups containing CD4, CD5, CD6, CD8, CD19, CD23, and CD25, and immunoglobulin G (IgG), IgM, IgA, and IgE, were in the normal range; hemoglobin F (HbF), 2.8%. Spontaneous and clastogen-induced chromosome breaks were not increased. A skin biopsy showed increased pigmentation at the basal layer, dyskeratotic epidermal cells, and marked IgM deposition and cytoid bodies and mild IgA and IgG deposits at the dermo-epidermal junction. Lactate response to glucose challenge, amino acid chromatography, and urine organic acid analysis were normal. A diagnosis of dyskeratosis congenita (DC) was made with typical skin lesions, dystrophic toenails, thin and sparse hair, and neutropenia with decreased myelopoiesis in BM. Treatment with granulocyte colony-stimulating factor (G-CSF) was considered for the neutropenia. As the increase in neutrophil count at a dose of 5 microg/kg was not adequate, 10 microg/kg G-CSF was tried (Fig. 2). With 10 microg/kg once to three times a week, a 1.8-4.8-fold increase in the absolute neutrophil count (ANC) was achieved with no side-effects. Treatment was more frequent during infection (days 22-28).
一名3岁土耳其男孩，有慢性咳嗽、复发性支气管肺炎病史，汗液氯化物试验临界值（40 mEq/L），被转诊至我科做进一步评估。他足月出生（体重2100 g），父母非近亲结婚。其母亲和父亲分别为40岁和46岁。体格检查（图1）发现全身有色素减退、萎缩性和角化过度性皮肤病变，周围有网状色素沉着，主要分布在面部、颈部、手臂、肩部和腿部，最初在18个月大时被发现。还观察到甲营养不良、头发稀疏且细以及包茎。实验室检查显示单纯性中性粒细胞减少（白细胞计数，1800/mm³）。骨髓穿刺显示骨髓生成减少但无骨髓发育异常改变，而红细胞生成、巨核细胞生成及基质正常。包含CD4、CD5、CD6、CD8、CD19、CD23和CD25的淋巴细胞亚群以及免疫球蛋白G（IgG）、IgM、IgA和IgE均在正常范围内；血红蛋白F（HbF）为2.8%。自发及致裂剂诱导的染色体断裂未增加。皮肤活检显示基底层色素沉着增加、角化不良的表皮细胞、明显的IgM沉积和细胞样小体，以及在真皮 - 表皮交界处轻度的IgA和IgG沉积。葡萄糖激发试验的乳酸反应、氨基酸色谱分析及尿有机酸分析均正常。根据典型的皮肤病变、甲营养不良、头发稀疏且细以及骨髓中骨髓生成减少伴中性粒细胞减少，诊断为先天性角化不良（DC）。考虑用粒细胞集落刺激因子（G - CSF）治疗中性粒细胞减少。由于5 μg/kg剂量时中性粒细胞计数增加不充分，尝试了10 μg/kg的G - CSF（图2）。每周一次至三次给予10 μg/kg，绝对中性粒细胞计数（ANC）增加了1.8至4.8倍，且无副作用。在感染期间（第22 - 28天）治疗更频繁。
