Zanardo Livia, Stolz Wilhelm, Schmitz Gerd, Kaminski Wolfgang, Vikkula Miikka, Landthaler Michael, Vogt Thomas
Department of Dermatology, University of Regensburg, Germany.
Acta Derm Venereol. 2004;84(1):57-60. doi: 10.1080/00015550310005780.
Familial progressive hyperpigmentation is rarely described in the literature. We report on five patients from three different families presenting with a peculiar progressive pigmentary disorder. The patients show a progressive diffuse, partly blotchy, hyperpigmentation, intermixed with scattered small hypopigmented macules, a few large hypopigmented areas, occasional café-au-lait spots and, most remarkably, a generalized lentiginosis. Histology revealed different degrees of basal layer hyperpigmentation and pigment incontinence, also in the spots appearing hypopigmented. Ultrastructural analysis showed a normal mode of Caucasian-like melanogenesis with varying content of regular melanosome complexes within the keratinocytes. All families are clustered in a small area around the town of Teublitz in south-east Germany with about 20,000 inhabitants, suggesting a genetic founder effect. Pedigree analysis is compatible with an autosomal dominant mode of inheritance with variable penetrance. Only a few similar, but not identical, cases have been reported in the past. This cluster of cases may therefore represent a rare and perhaps novel variant of a familial progressive disorder of hyperpigmentation.
家族性进行性色素沉着在文献中鲜有描述。我们报告了来自三个不同家族的五名患者，他们患有一种特殊的进行性色素沉着障碍。患者表现为进行性弥漫性、部分呈斑片状的色素沉着，夹杂着散在的小色素减退斑、一些大的色素减退区域、偶尔出现的咖啡斑，最显著的是全身性雀斑样痣。组织学检查显示，在色素减退斑处也有不同程度的基底层色素沉着和色素失禁。超微结构分析显示，角质形成细胞内正常模式的类似白种人的黑素生成，伴有不同含量的规则黑素小体复合物。所有家族都集中在德国东南部约有20000名居民的特布利茨镇周围的一个小区域，提示存在遗传奠基者效应。系谱分析符合常染色体显性遗传模式，具有可变的外显率。过去仅报道过少数几例相似但不完全相同的病例。因此，这一系列病例可能代表了一种罕见的、或许是新型的家族性进行性色素沉着障碍变体。
