Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers.
Three patients had prolidase deficiencies. The family pedigree of these three patients suggests that this rare disorder is inherited through an autosomal recessive gene. this genodermatosis is characterized by a number of signs and symptoms referable to the skin, CNS, teeth, ears, nose, throat, eyes, bones, and joints. Among the skin changes, recalcitrant leg ulcers are the most characteristic. At this time, there is no established method of treatment of this rare disorder, but the use of dapsone was helpful in the treatment of one of our patients.
D000328:Adult; D004150:Dipeptidases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D007871:Leg Ulcer / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D008297:Male; D010375:Pedigree; D011392:Proline / Q000172:deficiency / Q000235:genetics; D012867:Skin / Q000473:pathology
D011392:Proline; D004150:Dipeptidases; C022449:proline dipeptidase