1. [Pigmented macules as possible early signs of genetic syndromes].
- Author
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Hamm H, Emmerich K, and Olk J
- Subjects
- Diagnosis, Differential, Genetic Counseling, Genetic Diseases, Inborn, Humans, Mosaicism, Syndrome, Cafe-au-Lait Spots diagnosis, Cafe-au-Lait Spots genetics, Hyperpigmentation diagnosis, Hyperpigmentation genetics, Lentigo genetics, Lentigo pathology, Skin Abnormalities genetics
- Abstract
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.
- Published
- 2019
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