During childhood two women developed yellowish xanthoma-like papules on the neck. After dermatological examination and skin biopsy, the diagnosis pseudoxanthoma elasticum (PXE) was made. PXE is a hereditary metabolic disease which has an early onset with characteristic skin lesions. Early diagnosis and follow-up is essential to prevent serious ocular or cardiovascular complications. Follow-up standards are lacking for these patients.
Ugeskrift for Laeger, 2010, Vol 172, Issue 37, p. 2546-7