The hallmark of Prolidase Deficiency is severe, chronic, recalcitrant, and painful skin ulcers. The ulcers are located mainly on the lower extremities, particularly the feet. Other lesions such as telangiectasias of the face and hands are also common. Patients with Prolidase Deficiency have dysmorphic facial features, including widely spaced eyes, proptosis, depressed nasal bridge, prognathism, thin vermilion of the upper lip, and low anterior and posterior hairline. Other clinical characteristics common to patients with Prolidase Deficiency include recurrent infections, particularly of the skin and respiratory tract, chronic lung disease, digital clubbing, developmental delay of variable degree, and splenomegaly. An association with Systemic Lupus Erythematosus-like phenotype has also been described.
PEPD