Porphyria Cutanea Tarda Presenting as Scleroderma

Sclerodermatous skin changes were observed in a patient with porphyria cutanea tarda (PCT) who initially was diagnosed as having progressive systemic sclerosis (PSS). In extremely rare circumstances, patients with PCT initially are misdiagnosed as having generalized morphea, or PSS, because they lack the typical skin findings of PCT, such as blisters, skin fragility, scarring on the dorsal aspects of the hands, and facial hypertrichosis. However, even in cases of PCT that clinically mimic and are misdiagnosed as PSS, the sclerodermatous skin changes primarily occur in v-shaped areas of the neck. Our patient had sclerodactyly with fingertip ulcerations as well as the classic facial features and skin tightness of PSS. Upon initiation of therapeutic phlebotomy, fingertip ulcerations and sclerodactyly resolved, and there was a notable improvement of sclerodermatous skin changes of the face and forearms.