Mégarbané H, Boehm N, Chouery E, Bernard R, Salem N, Halaby E, Levy N, Mégarbané A
Service de Dermatologie, Hôtel-Dieu de France, Beirut, Lebanon.
Genet Couns. 2005;16(1):85-9.
We report a boy, born to healthy first cousin parents, with diffuse hyperpigmentation of the skin and guttate hypomelanotic lesions, photophobia, abnormal hair, developmental delay, and recurrent bronchitis. Skin histology showed pigmentation incontinence with numerous melanophages. Electron microscopy showed a very high number of melanosomes and some degenerating keratinocytes. These features correspond to a rare genodermatosis, the X-linked reticulate pigmentary disorder with systemic manifestations. Skewed X-inactivation patterns were detected in the mother's lymphocytes.
我们报告了一名男童，其父母为健康的近亲，该男童患有皮肤弥漫性色素沉着、点滴状色素减退性皮损、畏光、毛发异常、发育迟缓以及反复支气管炎。皮肤组织学检查显示色素失禁，有大量噬黑素细胞。电子显微镜检查显示有大量黑素小体和一些变性角质形成细胞。这些特征符合一种罕见的遗传性皮肤病，即伴有全身表现的X连锁网状色素沉着障碍。在母亲的淋巴细胞中检测到X染色体失活模式偏斜。
