Prolidase deficiency: a multisystemic hereditary disorder.
Prolidase deficiency is a rare hereditary disorder with a wide spectrum of clinical manifestations including skin ulcers, eczematous eruptions, characteristic facies, mental retardation, splenomegaly, and susceptibility to infections. We report two new cases of prolidase deficiency. Our patients had the typical manifestations of prolidase deficiency. One also had lupus erythematosus. Prolidase activity was either normal or half-normal in all family members. The skin disease in our patients did not respond to topical glycine/proline ointment or to oral vitamin C.
Bissonnette
R
R
Department of Medicine, Hotel-Dieu of Montreal Hospital, University of Montreal, Quebec, Canada.
Friedmann
D
D
Giroux
J M
JM
Dolenga
M
M
Hechtman
P
P
Der Kaloustian
V M
VM
Dubuc
R
R
D000293:Adolescent; D000328:Adult; D004150:Dipeptidases / Q000172:deficiency*; D004485:Eczema / Q000209:etiology*; D005190:Family; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications; D012883:Skin Ulcer / Q000209:etiology*
D004150:Dipeptidases; C022449:proline dipeptidase