فهرست نشریات علمی دسترسی آزاد ایران

A mutation in uroporphyrinogen III synthase results in congenital erythropoietic porphyria (CEP), a rare autosomal recessive type of cutaneous porphyria that most commonly manifests in infancy. This genetic defect can cause the accumulation of porphyrin metabolites and heme precursors in different tissues, resulting in a range of clinical signs and symptoms. These manifestations include severe photosensitivity of the skin, presenting as blisters and scarring, hypertrichosis, acro-osteolysis, reddish discoloration of the teeth and urine, and a reduced life expectancy.  Furthermore, these heme precursors can have adverse effects on bones, blood vessels, nerves, the eyes, and other organs. There are very few documented cases of porphyria patients with sclerocorneal involvement. We present a case of scleromalacia in a patient with a rare genodermatosis similar to CEP, who survived into adulthood, making this case interesting and challenging.