ABSTRACT

Pseudoxanthoma elasticum (PXE) is a multisystemic, metabolic and autosomal recessive inherited disorder affecting especially elastic fibers of skin, retina and blood vessels. The prevalence varies from 1:25,000 to 1:100,000. The average age of onset is 13.5 years. Yellowish papules 1-3 mm in diameter and plaques merging as linear or reticular pattern are mostly on antecubital fossae, popliteal fossae, inguinal region, lower clavicle, neck, axilla, flexural regions as umbilicus and trauma sites. Of the patients, 85% have eye involvement. The first symptom of eye involvement is spot retinal pigmentation. Cardiovascular complications occur usually in adults. The most common and early cardiovascular complication is intermittent claudication. There is no specific treatment for skin signs. Lifestyle changes may have important effects on prognosis. A male patient with 3-year history of yellowish papules on his neck and 1-year history of yellowish papules on his groins, was presented in this case report. This 7-year-old patient received a diagnosis of PXE based on medical story, clinical examination and histopathological findings. This case was presented as PXE is a rare disease and should be diagnosed by the clinician at early ages.