Antoni-Bach N, Pfister R, Grosshans E, Kleinclaus I, Boehm N, Grange F, Guillaume J
Service de Dermatologie, Hôpital Pasteur, 68024 Colmar Cedex, France.
Ann Dermatol Venereol. 2000 Apr;127(4):400-4.
Hereditary progressive mucinous histiocytosis is an uncommon condition which to date has only been observed in women. The disease is a non-Langerhans histiocytosis with a stereotypic clinical presentation limited to the skin. The clinical, histological and genetic features of this disease differ considerably from other types of histiocytoses and overload diseases. We report the first case observed in France.
A 49-year-old woman consulted for asymptomatic papules on the dorsal aspect of the hands known since childhood. The lesions had progressively spread to other regions of the body. The woman's mother and two sisters had the same condition but her two sons and her brother and nephews did not. Standard semi-thin slices and electron microscope histology demonstrated dense cellular infiltration of the reticular dermis with interstitial mucinous overload, voluminous histiocytes with characteristic toluidine blue positive granulations, and a cytoplasm rich in myelin and Zebra bodies respectively. The observed clinical, histological and genetic features were characteristic of progressive hereditary progressive mucinous histiocytosis.
The pedigree in our case and in those reported in the literature suggest a dominant hereditary condition. The fact that only female cases have been reported to date would suggest X-linked transmission with early death of male fetuses. An autosomal dominant transmission limited to woman as a result of mitochondrial heredity or hormone-related phenomena cannot be ruled out. The progressive extension with age without a tendency for spontaneous regression and the electron microscopy aspect suggest a phospholipid deposit disorder similar to that observed in lysosomial diseases. However, primary macrophage proliferation in response to an unknown stimulus cannot be excluded.
遗传性进行性黏液性组织细胞增生症是一种罕见疾病，迄今为止仅在女性中观察到。该疾病是一种非朗格汉斯组织细胞增生症，具有局限于皮肤的典型临床表现。这种疾病的临床、组织学和遗传学特征与其他类型的组织细胞增生症和超负荷疾病有很大不同。我们报告了在法国观察到的首例病例。
一名49岁女性因自幼就有的手部背侧无症状丘疹前来就诊。病变已逐渐蔓延至身体其他部位。该女性的母亲和两个姐妹有相同病症，但她的两个儿子、兄弟和侄子没有。标准半薄切片和电子显微镜组织学检查显示网状真皮有密集的细胞浸润，伴有间质黏液超负荷，有大量具有特征性甲苯胺蓝阳性颗粒的组织细胞，以及分别富含髓磷脂和斑马小体的细胞质。观察到的临床、组织学和遗传学特征符合进行性遗传性进行性黏液性组织细胞增生症。
我们病例以及文献报道病例的谱系提示为显性遗传疾病。迄今为止仅报道了女性病例这一事实提示为X连锁遗传，男性胎儿早期死亡。不能排除由于线粒体遗传或激素相关现象导致的仅限于女性的常染色体显性遗传。随着年龄增长的进行性扩展且无自发消退倾向以及电子显微镜表现提示一种类似于溶酶体疾病中观察到的磷脂沉积障碍。然而，不能排除对未知刺激的原发性巨噬细胞增殖。
