Juvenile Pseudoxanthoma Elasticum: Recognition and Management

Abstract excerpt

An 8-year-old girl had pseudoxanthoma elasticum (PXE) with the characteristic skin and ocular findings. She had no associated systemic symptoms and no family history of PXE. The disease was most likely inherited in an autosomal recessive fashion. It is reviewed with regard to etiology, inheritance, diagnosis, and, particularly, management.

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