[Pigmented macules as possible early signs of genetic syndromes].


Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Deutschland. [Email]


Solitary congenital or early apparent pigmented macules are usually without relevance; however, when multiple, extensive or in a patterned arrangement, they are not uncommonly the first sign of an underlying genetic syndrome. The present article gives an overview on the clinical significance of multiple café-au-lait macules, multiple lentigines and pigmentary mosaicism and discusses the differential diagnosis of associated syndromes. Early diagnosis with the essential contribution of the dermatologist is not only important for genetic counseling but can also contribute to avoidance of sometimes life-threatening complications.


Cafe-au-lait spots,Genetic disorders,Hyperpigmentation,Lentigines,Pigmentary mosaicism,