title: Prolidase deficiency: its dermatological manifestations and some additional biochemical studies.
abstract: Prolidase deficiency occurred in a 13-year-old girl. Determinations were made of prolidase and prolinase activities in cultured fibroblasts, and thin layer chromatographic studies of skin prolidase were performed. The patient had chronic, recurrent ulcers on the legs and feet, diffuse telangiectasia, shallow scar-like atrophic lesions on the face and arms, soft and thin abdominal skin, and premature gray hairs. Prolidase in the patient's skin fibroblasts was absent. Greatly reduced prolidase activity was demonstrated in the patient's skin. A review of hitherto reported cases of this disease showed such skin manifestations as (1) skin ulceration or skin fragility with scar formation, (2) purpuric lesions, (3) telangiectasia and/or photosensitivity, and (4) thickening of the skin with lymphedema.
mesh_terms: D000293:Adolescent; D002855:Chromatography, Thin Layer; D004150:Dipeptidases / Q000172:deficiency*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology; D007871:Leg Ulcer / Q000201:enzymology / Q000473:pathology; D011392:Proline; D011537:Pruritus / Q000201:enzymology; D012008:Recurrence; D012867:Skin / Q000201:enzymology* / Q000473:pathology; D012871:Skin Diseases / Q000201:enzymology* / Q000473:pathology
chemical_list: D011392:Proline; D004150:Dipeptidases; C022454:prolyl dipeptidase; C022449:proline dipeptidase