Pediatria pre prax 3/2018
Diferenciálna diagnostika café-au-lait makúl
Differential diagnoses of café-au-lait spots The presence of café-au-lait macules (CALMs) on the skin of a child might just be an esthetic variation, as well as a sign of serious disease. Especially during early childhood, before the onset of other clinical symptoms, it is often complicated to establish the right diagnosis. Although solitary CALMs are quite common in healthy population, the appearence of multiple spots might be the first sign of a genetically determined disease. In this article we summarize the conditions associated with CALMs and similar hyperpigmentations. This includes neurofibromatosis type 1 and other rasopathies that have a high incidence of tumors and organ complications. Therefore an early diagnosis has a significant impact on the quality of life of these patients.
Keywords: café-au-lait macules, hyperpigmentations, neurofibromatosis, rasopathies
