Prolidase deficiency

A 32‐year‐old mentally retarded woman was admitted to hospital with recurrent ulcers on her legs, which appeared for the first time at 8 years of age. Apart from recurrent lower respiratory tract infections and chronic otitis media, her personal history was unremarkable. Her parents were second‐degree relatives. The family history showed no similar disease or mental retardation. Physical examination revealed that the patient had an unusual facial appearance, with a high‐arched palate; she had multiple tooth caries ( Fig. 1). Figure 1 Facial appearance of the patient There was edema and induration on both legs; extensive polygonal ulcers with elevated borders were noted. All lesions were 2–4 mm deep with vertical margins and a necrotic base. The surrounding skin was atrophic, and depigmented cicatricial lesions were detected ( Fig. 2). She had crops of erythematous lesions and telangiectasias over the face, shoulders, arms, and extremities. She also showed photosensitivity, palmar hyperkeratosis, verrucous papules and plaques on the dorsal aspects of both feet consistent with lymphedematous changes, pes planus deformity, and hyperextensible joints. There was a scleroatrophic appearance and flexion contracture of the little fingers on both hands. Her abdomen was relatively protuberant and she had splenomegaly. Laboratory analysis revealed an elevated erythrocyte sedimentation rate, hypergammaglobulinemia, and iron deficiency anemia. A large amount of hydroxyproline was detected after hydrolysis of a 24‐h urine specimen (205 mg/day). Her plasma manganese level was 1.94 mg/dL (normal) and her vitamin C level was 1.4 mg/dL (below normal). Skin biopsies showed nonspecific inflammatory changes. Topical silver sulfadiazine and oral vitamin C (3 g/day) treatment was started. 2Ulcers and depigmented cicatricial lesions on the legs