Walker T, von Komorowski G, Scheurlen W, Dorn-Beineke A, Back W, Bayerl C
Department of Dermatology, Mannheim University Clinic, Mannheim, Germany.
Dermatology. 2006;212(1):70-2. doi: 10.1159/000089026.
Bullous mastocytosis is an unusual variant of mast cell disease with widespread bullae as the main cutaneous feature induced by mast cell proteases that cause dermoepidermal separation.
A rare case of diffuse cutaneous bullous mastocytosis with pachydermia and unusually extensive skin folding is described in a 3-week-old girl. The diagnosis was confirmed by immunohistochemistry with Giemsa stain, the naphthol ASD chloroacetate esterase reaction and elevated blood levels for tryptase, histamine in serum and histamine and 1.4-methylimidazol acetic acid in the 24-hour urine. Blood cell count was normal, as were thrombocytosis and leukocytosis. FACS analysis of the bone marrow aspiration material showed 1% mast cells. No c-Kit 816 [Asp-->Val] somatic mutation was found. Systemic involvement of other organs was excluded.
The prognosis of c-Kit-negative diffuse bullous mastocytosis is not known. Regular blood controls are mandatory, and screening for germ cell ovarian cancer and bone marrow controls should be performed as well.
大疱性肥大细胞增多症是肥大细胞疾病的一种罕见变异型，以广泛的大疱为主要皮肤特征，由导致真皮表皮分离的肥大细胞蛋白酶引起。
本文描述了一名3周大女孩患弥漫性皮肤大疱性肥大细胞增多症并伴有厚皮症和异常广泛皮肤褶皱的罕见病例。通过吉姆萨染色免疫组织化学、萘酚ASD氯乙酸酯酶反应以及血清中类胰蛋白酶、组胺水平升高和24小时尿液中组胺及1,4 -甲基咪唑乙酸水平升高确诊。血细胞计数正常，血小板增多症和白细胞增多症也正常。骨髓穿刺材料的流式细胞术分析显示有1%的肥大细胞。未发现c-Kit 816[天冬氨酸→缬氨酸]体细胞突变。排除了其他器官的系统性受累。
c-Kit阴性弥漫性大疱性肥大细胞增多症的预后尚不清楚。必须定期进行血液检查，还应进行生殖细胞卵巢癌筛查和骨髓检查。
