Pseudoxanthoma elasticum is a genetic metabolic disease which leads to ectopic mineralisation in the elastic tissues of the skin, eyes and blood vessels. The clinical signs are small yellow or normal skin-coloured papules on the nape of the neck and lateral sides of the neck, as well as in flexural areas and periumbilical region. The skin becomes loose and wrinkled. The diagnosis on dark skin is particularly difficult. The dermatologist evokes the diagnosis and refers the patient to specialists in order to detect complications. We propose here a practical case study.
© 2024 The Authors. Skin Health and Disease published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.