By Gary M. White, MD
A genetic mutation causing prolidase deficiency can cause leg ulcers and a wide variety of other defects.
- The ulcers and other defects may appear in early childhood.
- Proline is an amino acid that constitutes 20% of the amino acids in collagen. A deficiency of prolidase impairs the recycling of proline which is important for tissue repair. Ulcers may result.
- Other features include a characteristic face with saddle nose, mental retardation, frequent infections, partial deafness, visual disturbances and joint dislocation.
A 25 year-old Egyptian male presented with an ulcer on the right leg since 3 years and another one on the dorsum of left foot since 2.5 years. The ulcers were slightly painful with history of delayed healing. There was oozing and crusted skin lesions on both palms and forearms with pruritus 7 months ago. He was suffering from difficulties in learning and unsocial behavior. Egyptian Dermatology Online Journal 7 (2): 14
A 6-year-old white boy of Amish ancestry and consanguineous parents presented with chronic lower extremity ulcers. Since the age of 2, the patient had experienced numerous deep ulcers on the thighs, legs, and feet that developed without preceding trauma. He also had a history of frequent epistaxis and easy bruisability, splenectomy for thrombocytopenia, esophageal varices and cirrhosis, pulmonary hypertension, recurrent pneumonias with bronchiectasis, recurrent otitis media, and chronic sinusitis. [JAAD June 2010 Volume 62, Issue 6, Pages 1031–1034]
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