Abstract
Pseudoxanthoma elasticum (PXE) is a rare genetic systemic disease with ectopic mineralization of the connective tissue leading to clinical manifestations in the skin, eyes and cardiovascular system. PXE is caused by mutations in the ABCC6 gene and is transmitted in an autosomal recessive manner. A 9-year-old boy presented with periumbilical skin findings since birth. The detection of typical retinal manifestations ("peau d'orange"-phenomenon) made possible a definite diagnosis, following the new diagnostic criteria for PXE from 2010. Curative treatment options are still unavailable so the interdisciplinary care of PXE patients by dermatologists, ophthalmologists and cardiologists appears to be pivotal to prevent severe ophthalmologic and cardiovascular complications.
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