1981
DOI: 10.1001/archderm.117.11.689
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Autosomal recessive prolidase deficiency. Three patients with recalcitrant ulcers

Abstract: 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 i… Show more

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Cited by 28 publications
(40 citation statements)
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“…The levels of plasma proline are in the normal range in our patients (data not shown). Oral proline supplementation does not show any clinical benefit in other patients reported previously [Sheffield et al, 1977;Isemura et al, 1979;Ogata et al, 1981]. Thus, the theory of proline depletion is hard to establish.…”
Section: Discussionmentioning
confidence: 80%
“…The levels of plasma proline are in the normal range in our patients (data not shown). Oral proline supplementation does not show any clinical benefit in other patients reported previously [Sheffield et al, 1977;Isemura et al, 1979;Ogata et al, 1981]. Thus, the theory of proline depletion is hard to establish.…”
Section: Discussionmentioning
confidence: 80%
“…Prolidase deficiency has been demonstrated in fibroblasts, erythrocytes or leukocytes in 17 patients, including the two in this report [Powell et al, 1974[Powell et al, , 1977Jackson et al, 1975;Sheffield et al, 1977;Arata et al, 1979;Gejyo et al, 1980;Ogata et al, 1981;Charpentier et al, 1981;Pedersen et al, 1983;Gray et al, 19831. Three other patients were "strongly suspected" of having had prolidase deficiency on the basis of their clinical history and imidodipeptiduria [Goodman et al, 1968;Lapiere and Nusgens, 1969;Johnstone et al, 19741.…”
Section: Discussionmentioning
confidence: 79%
“…Prolidase deficiency is an inborn error of metabolism mainly associated with recurrent skin ulcers [Goodman et al, 1968;Buist et al, 1972;Lapiere and Nusgens, 1969;Nusgens and Lapiere, 1973;Johnstone et al, 1974;Powell et al, 1974Powell et al, , 1977Jackson et al, 1975;Powell and Maniscalco, 1976;Faull et al, 1976;Sheffield et al, 1977;Royce and Danks, 1982;Kodama et al, 1976;Umemura, 1978;Arata et al, 1979;Isemura et al, 1979;Gejyo et al, 1980;Isemura et al, 1981;Ogata et al, 1981;Endo and Matsuda, 1981;Endo et al, 1982;Charpentier et al, 1981;Myara et al, 1983;Pedersen et al, 1983;Gray et al, 19831. Additional associated findings include other dermatological manifestations, mental retardation, splenomegaly and developmental abnormalities.…”
Section: Introductionmentioning
confidence: 99%
“…Transfusion of normal erythrocytes containing prolidase activity has raised endogenous prolidase activity (Endo et al, 1982) but without an effect on skin signs or imidodipeptiduria (Ogata et al, 198l;Isemura et al, 1981). Skin grafts failed to cure the lesions (Ogata et al, 1981), but daily applications of topical L-proline and glycine have improved leg ulcers (Arata et aL, 1986). These observations, together with the recent advances in gene transfer, prompted us to evaluate the possibility of gene therapy for protidase deficiency.…”
Section: Discussionmentioning
confidence: 99%