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What's the diagnosis?
Diagnosis: Pseudoxanthoma elasticum (PXE)
Most authors recommend cardiac risk factor modification (avoiding tobacco, controlling hyperlipidemia and hypertension) and close follow-up with ophthalmology. Neo-vascularization, which can lead to visual impairment, is often treatable early on. Treatment protocols are limited to case series; calcium intake limitation, as well as the use of calcium chelators, is controversial. There is a recent case series which showed the improvement of skin changes using oral phosphate binders.
Of particular importance in our patient was concern about future family planning, both from an obstetrics perspective as well as from a genetic counseling perspective. A recent report showed essentially no adverse outcomes for infant or mother, with the exception of worsening maternal skin disease and a slight increased risk of gastrointestinal bleeding.4,5 Previous authors have documented an increase in retinal hemorrhage, especially with prolonged labor, and so an expedited delivery or even cesarean section is often recommended.