A Rare Cause of Lower Extremity Ulcers

Abstract

Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections. This study describes 4 patients with recurrent leg ulcerations and abnormal facies who were first clinically suspected of prolidase deficiency and then biochemically confirmed. Two siblings and 2 other patients were admitted to our clinic at different times, and they had some common features such as chronic leg and foot ulcers recalcitrant to treatment, consanguineous parents, facial dysmorphism, mental retardation, and widespread telangiectasias. Physical examination and detection of low prolidase level in blood finally led us to the diagnose of ulcers secondary to prolidase deficiency. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of recurrent leg and foot ulcers that develop at an early age.

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

“…Prolidase deficiency (PD) is an autosomal recessive disorder with approximately only 100 cases reported worldwide. [1][2][3] The peptidase-D ( PEPD) gene located on chromosome 19q13.11 encodes prolidase, an important enzyme in collagen catabolism, whose deficiency results in various clinical manifestations including chronic leg ulcerations, facial dysmorphism, intellectual disability, and recurrent skin and pulmonary infections. The diagnosis can be confirmed either by decreased prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts combined with imidodipeptiduria or by the identification of a pathogenic PEPD gene variant.…”

Topical tacrolimus therapy in the management of lower extremity ulcers due to prolidase deficiency

“…Specifically, they occur mostly on the lower extremities and have an onset before the age of 12, as was seen in this patient . The ulcers often have an irregular shape, purulent exudate, and prominent granulation tissue . Unfortunately, these ulcers are recurrent and resistant to treatment.…”

“…Ulcers are particularly common, and roughly half of patients have ulcerations on their feet at the time of presentation . Biopsy of the ulcers often reveal nonspecific findings . There are several distinct characteristics of PD ulcers.…”

A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene

“…PD can manifest with various clinical findings such as recurrent leg ulcerations, several dysmorphic facial features, intellectual disability, hematologic abnormalities, and several lymphoreticular and immune system findings 3, 4. Other skin indications of the disease can include telangiectasias, purpura, premature graying of the hair, photosensitivity, erythematous maculopapular rash, and hypertrichosis 6, 7, 8, 9. Various facial dysmorphic findings have also been reported 4, 6, 7, 8.…”

“…Other skin indications of the disease can include telangiectasias, purpura, premature graying of the hair, photosensitivity, erythematous maculopapular rash, and hypertrichosis 6, 7, 8, 9. Various facial dysmorphic findings have also been reported 4, 6, 7, 8. Other manifestations related to PD include anemia, thrombocytopenia, elevated liver enzymes, hypergammaglobulinemia, hypocomplementemia, splenomegaly, and recurrent infections 3, 4, 5…”