Aesthetic complaints as clue to Pseudoxanthoma elasticum

Background: Aesthetic issues might be the clue to systemic disease diagnosis, and undervaluation might postpone appropriate assessment.Pseudoxanthoma elasticum is a heritable metabolic disorder of the connective tissues, clinically affecting the skin, the eyes and the cardiovascular system, with consistent morbidity and eventual severe complications, such as blindness or unexpected gastro-intestinal bleeding. Case report: A 23-year-old woman presented with multiple smooth yellowish papules and cobblestone plaque on the lateral and posterior side of the neck. The patient was otherwise healthy, but histological examination of a skin biopsy and ophthalmology confirmed the clinical suspect of pseudoxanthoma elasticum. Genetic testing revealed a peculiarcompound heterozygosity, with the typical pathogenic nonsense mutation on exon 9 (c.1132 C>T p.Q378X), and a novel missense mutation on exon 26 (c.3700 G>A p.E1234K), which should be thus added to the list of the disease-causing mutations. Conclusions: Skilled expertise and careful patient’s examination are the clue to recognise minimal signs of systemic disease, such as pseudoxanthoma elasticum. Phenotypical variation and differential diagnosis requires multispecialty cooperation, involving the dermatologist, ophthalmologist, pathologist, geneticist and an internist evaluation, including cardiovascular and gastro-enteric screening. As there is no specific treatment, management focuses on prevention and monitoring of complications.