Prolidase deficiency: case reports of two Argentinian brothers
Identifieur interne : 006001 ( Istex/Corpus ); précédent : 006000; suivant : 006002Prolidase deficiency: case reports of two Argentinian brothers
Auteurs : Hugo N. Cabrera ; Patricia Della Giovanna ; Natalia F. Bozzini ; Antonella ForlinoSource :
- International Journal of Dermatology [ 0011-9059 ] ; 2004-09.
Abstract
A 28‐year‐old man presented with his first leg ulcer at the age of 10 years. With regard to the family history, there was no consanguinity between the parents, and the patient had a brother with similar findings. He had frequent infections in childhood, such as otitis media, tuberculosis, and septic arthritis. At the age of 11 years, he showed photosensitivity, malar erythema, and positive antinuclear antibody test (1 : 40), and systemic lupus erythematosus was diagnosed (Fig. 1). This disease was later ruled out because diagnostic criteria were not present. At the age of 12 years, the ulcers worsened and did not respond to different treatments (antimicrobials, prednisone), and a diagnosis of pyoderma gangrenosum was suggested. Nevertheless, histopathology rejected such a diagnosis. The disease progressed until the patient presented again to our department. On examination, the ulcers were located on both legs and thighs, had a polygonal form, elevated borders, and necrotic base (Fig. 2). They showed edema and induration with multiple scars. Dystrophic nails, saddle nose, hypertelorism, syndactyly, obesity, and deformity of the auricle were observed. Laboratory analysis revealed iron deficiency anemia (hematocrit, 30%), an erythrocyte sedimentation rate of 120 mm/h, an elevated gammaglobulin level (3.79 g%), and an elevated immunoglobulin E (IgE) (3285 U/L). Skin cultures were negative. The rest of the laboratory studies were normal (creatinine, glucose, C3, C4, negative HIV, and normal abdominal examination). The evaluation of cellular and humoral immunity showed normal results; chromosome studies disclosed no abnormalities. A skin biopsy showed no specific abnormalities, except fibroblastic proliferation, inflammation, and ulcers that infiltrated the hypodermis. No signs of vasculitis were found. Multiple histologic analyses had been performed throughout the patient's life without any different findings. Aliquots of urine from the patient and controls were analyzed by capillary zone electrophoresis (CZE) according to the method proposed by Zanaboni et al. (Zanaboni G, Grimm KM, Dyne KM, et al. Use of capillary zone electrophoresis for analysis of iminodipeptides in urine of prolidase‐deficient patients. J Chromatogr B 1996; 683: 97–107.) The presence of a large amount of dipeptides, normally absent from control samples, was detected in the patient. There is no specific or effective treatment for prolidase deficiency, but the patient received oral and topical antimicrobials, oral prednisone, 1 mg/kg/day, and thalidomide, 200 mg/day, for 8 months in order to decrease the size of the ulcers and to improve his life quality. Unfortunately, treatment failed.
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DOI: 10.1111/j.1365-4632.2004.02411.x
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Prolidase deficiency: case reports of two Argentinian brothers</title><author><name sortKey="Cabrera, Hugo N" sort="Cabrera, Hugo N" uniqKey="Cabrera H" first="Hugo N." last="Cabrera">Hugo N. Cabrera</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: hugocabrera20@yahoo.com</mods:affiliation></affiliation></author><author><name sortKey="Giovanna, Patricia Della" sort="Giovanna, Patricia Della" uniqKey="Giovanna P" first="Patricia Della" last="Giovanna">Patricia Della Giovanna</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Bozzini, Natalia F" sort="Bozzini, Natalia F" uniqKey="Bozzini N" first="Natalia F." last="Bozzini">Natalia F. Bozzini</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Forlino, Antonella" sort="Forlino, Antonella" uniqKey="Forlino A" first="Antonella" last="Forlino">Antonella Forlino</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. 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Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: hugocabrera20@yahoo.com</mods:affiliation></affiliation></author><author><name sortKey="Giovanna, Patricia Della" sort="Giovanna, Patricia Della" uniqKey="Giovanna P" first="Patricia Della" last="Giovanna">Patricia Della Giovanna</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Bozzini, Natalia F" sort="Bozzini, Natalia F" uniqKey="Bozzini N" first="Natalia F." last="Bozzini">Natalia F. Bozzini</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Forlino, Antonella" sort="Forlino, Antonella" uniqKey="Forlino A" first="Antonella" last="Forlino">Antonella Forlino</name><affiliation><mods:affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">International Journal of Dermatology</title><title level="j" type="alt">INTERNATIONAL JOURNAL OF DERMATOLOGY</title><idno type="ISSN">0011-9059</idno><idno type="eISSN">1365-4632</idno><imprint><biblScope unit="vol">43</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="684">684</biblScope><biblScope unit="page" to="686">686</biblScope><biblScope unit="page-count">3</biblScope><publisher>Blackwell Science Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2004-09">2004-09</date></imprint><idno type="ISSN">0011-9059</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0011-9059</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">A 28‐year‐old man presented with his first leg ulcer at the age of 10 years. With regard to the family history, there was no consanguinity between the parents, and the patient had a brother with similar findings. He had frequent infections in childhood, such as otitis media, tuberculosis, and septic arthritis. At the age of 11 years, he showed photosensitivity, malar erythema, and positive antinuclear antibody test (1 : 40), and systemic lupus erythematosus was diagnosed (Fig. 1). This disease was later ruled out because diagnostic criteria were not present. At the age of 12 years, the ulcers worsened and did not respond to different treatments (antimicrobials, prednisone), and a diagnosis of pyoderma gangrenosum was suggested. Nevertheless, histopathology rejected such a diagnosis. The disease progressed until the patient presented again to our department. On examination, the ulcers were located on both legs and thighs, had a polygonal form, elevated borders, and necrotic base (Fig. 2). They showed edema and induration with multiple scars. Dystrophic nails, saddle nose, hypertelorism, syndactyly, obesity, and deformity of the auricle were observed. Laboratory analysis revealed iron deficiency anemia (hematocrit, 30%), an erythrocyte sedimentation rate of 120 mm/h, an elevated gammaglobulin level (3.79 g%), and an elevated immunoglobulin E (IgE) (3285 U/L). Skin cultures were negative. The rest of the laboratory studies were normal (creatinine, glucose, C3, C4, negative HIV, and normal abdominal examination). The evaluation of cellular and humoral immunity showed normal results; chromosome studies disclosed no abnormalities. A skin biopsy showed no specific abnormalities, except fibroblastic proliferation, inflammation, and ulcers that infiltrated the hypodermis. No signs of vasculitis were found. Multiple histologic analyses had been performed throughout the patient's life without any different findings. Aliquots of urine from the patient and controls were analyzed by capillary zone electrophoresis (CZE) according to the method proposed by Zanaboni et al. (Zanaboni G, Grimm KM, Dyne KM, et al. Use of capillary zone electrophoresis for analysis of iminodipeptides in urine of prolidase‐deficient patients. J Chromatogr B 1996; 683: 97–107.) The presence of a large amount of dipeptides, normally absent from control samples, was detected in the patient. There is no specific or effective treatment for prolidase deficiency, but the patient received oral and topical antimicrobials, oral prednisone, 1 mg/kg/day, and thalidomide, 200 mg/day, for 8 months in order to decrease the size of the ulcers and to improve his life quality. 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Posadas” Hospital, Buenos Aires, Argentina<address><country key="AR"></country></address></affiliation><affiliation>Hugo N. Cabrera, md Hospital Alejandro Posadas Servicio de Dermatologia (1 piso A) Avenue Illia y Marconi (1694) El Palomar Buenos Aires Argentina E‐mail: hugocabrera20@yahoo.com</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Patricia Della</forename><surname>Giovanna</surname></persName><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina<address><country key="AR"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Natalia F.</forename><surname>Bozzini</surname></persName><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina<address><country key="AR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Antonella</forename><surname>Forlino</surname></persName><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina<address><country key="AR"></country></address></affiliation></author><idno type="istex">CC8F2A164188D45E5E69DB974432356D557D720F</idno><idno type="DOI">10.1111/j.1365-4632.2004.02411.x</idno><idno type="unit">IJD2411</idno><idno type="toTypesetVersion">file:IJD.IJD2411.pdf</idno></analytic><monogr><title level="j" type="main">International Journal of Dermatology</title><title level="j" type="alt">INTERNATIONAL JOURNAL OF DERMATOLOGY</title><idno type="pISSN">0011-9059</idno><idno type="eISSN">1365-4632</idno><idno type="book-DOI">10.1111/(ISSN)1365-4632</idno><idno type="book-part-DOI">10.1111/ijd.2004.43.issue-9</idno><idno type="product">IJD</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">43</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="684">684</biblScope><biblScope unit="page" to="686">686</biblScope><biblScope unit="page-count">3</biblScope><publisher>Blackwell Science Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2004-09"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main">
Case 1
<p>A 28‐year‐old man presented with his first leg ulcer at the age of 10 years. With regard to the family history, there was no consanguinity between the parents, and the patient had a brother with similar findings. He had frequent infections in childhood, such as otitis media, tuberculosis, and septic arthritis. At the age of 11 years, he showed photosensitivity, malar erythema, and positive antinuclear antibody test (1 : 40), and systemic lupus erythematosus was diagnosed (<ref type="figure" target="#f1">Fig. 1</ref>). This disease was later ruled out because diagnostic criteria were not present.</p><figure xml:id="f1"><label>1</label><media mimeType="image" url="urn:x-wiley:00119059:media:IJD2411:IJD_2411_f1"></media><media mimeType="image/gif" url="" rendition="webOriginal"></media><media mimeType="image/gif" url="" rendition="webLoRes"></media><figDesc>
Photosensitivity and malar erythema at the age of 11 years (Case 1)
</figDesc></figure><p>At the age of 12 years, the ulcers worsened and did not respond to different treatments (antimicrobials, prednisone), and a diagnosis of pyoderma gangrenosum was suggested. Nevertheless, histopathology rejected such a diagnosis. The disease progressed until the patient presented again to our department.</p><p>On examination, the ulcers were located on both legs and thighs, had a polygonal form, elevated borders, and necrotic base (<ref type="figure" target="#f2">Fig. 2</ref>). They showed edema and induration with multiple scars. Dystrophic nails, saddle nose, hypertelorism, syndactyly, obesity, and deformity of the auricle were observed. Laboratory analysis revealed iron deficiency anemia (hematocrit, 30%), an erythrocyte sedimentation rate of 120 mm/h, an elevated gammaglobulin level (3.79 g%), and an elevated immunoglobulin E (IgE) (3285 U/L). Skin cultures were negative. The rest of the laboratory studies were normal (creatinine, glucose, C3, C4, negative HIV, and normal abdominal examination). The evaluation of cellular and humoral immunity showed normal results; chromosome studies disclosed no abnormalities.</p><figure xml:id="f2"><label>2</label><media mimeType="image" url="urn:x-wiley:00119059:media:IJD2411:IJD_2411_f2"></media><media mimeType="image/gif" url="" rendition="webOriginal"></media><media mimeType="image/gif" url="" rendition="webLoRes"></media><figDesc>
Polygonal and deep ulcers on the left thigh (Case 1)
</figDesc></figure><p>A skin biopsy showed no specific abnormalities, except fibroblastic proliferation, inflammation, and ulcers that infiltrated the hypodermis. No signs of vasculitis were found. Multiple histologic analyses had been performed throughout the patient's life without any different findings.</p><p>Aliquots of urine from the patient and controls were analyzed by capillary zone electrophoresis (CZE) according to the method proposed by Zanaboni <hi rend="italic">et al</hi>. (Zanaboni G, Grimm KM, Dyne KM, <hi rend="italic">et al.</hi> Use of capillary zone electrophoresis for analysis of iminodipeptides in urine of prolidase‐deficient patients. <hi rend="italic">J Chromatogr B</hi> 1996; <hi rend="bold">683:</hi> 97–107.) The presence of a large amount of dipeptides, normally absent from control samples, was detected in the patient.</p><p>There is no specific or effective treatment for prolidase deficiency, but the patient received oral and topical antimicrobials, oral prednisone, 1 mg/kg/day, and thalidomide, 200 mg/day, for 8 months in order to decrease the size of the ulcers and to improve his life quality. Unfortunately, treatment failed.</p>
Case 2
<p>The 23‐year‐old younger brother showed his first lesion at the age of 8 years. He had smaller leg ulcers than his brother, but they were pruriginous (<ref type="figure" target="#f3">Fig. 3</ref>). The round ulcers of 2–3 cm in diameter were on the inner part of the thighs. Laboratory analysis revealed hypergammaglobulinemia (26.3 g%), an erythrocyte sedimentation rate of 58 mm/h, splenomegaly, and elevated iminodipeptides in the urine. The evaluation of humoral and cellular immunity showed normal results. Skin biopsy showed no specific abnormalities, but fibrosis and perivascular inflammatory changes were present.</p><figure xml:id="f3"><label>3</label><media mimeType="image" url="urn:x-wiley:00119059:media:IJD2411:IJD_2411_f3"></media><media mimeType="image/gif" url="" rendition="webOriginal"></media><media mimeType="image/gif" url="" rendition="webLoRes"></media><figDesc>
Rounded ulcers on the left thigh of the younger brother (Case 2)
</figDesc></figure><p>He was treated with topical antimicrobials, cortisone, and thalidomide, 200 mg/day, for 8 months without response.</p></abstract><textClass><classCode scheme="tocHeading1">Cameo</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/CC8F2A164188D45E5E69DB974432356D557D720F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Science Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1365-4632</doi><issn type="print">0011-9059</issn><issn type="electronic">1365-4632</issn><idGroup><id type="product" value="IJD"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="INTERNATIONAL JOURNAL OF DERMATOLOGY">International Journal of Dermatology</title></titleGroup></publicationMeta><publicationMeta level="part" position="09009"><doi origin="wiley">10.1111/ijd.2004.43.issue-9</doi><numberingGroup><numbering type="journalVolume" number="43">43</numbering><numbering type="journalIssue" number="9">9</numbering></numberingGroup><coverDate startDate="2004-09">September 2004</coverDate></publicationMeta><publicationMeta level="unit" type="caseStudy" position="16" status="forIssue"><doi origin="wiley">10.1111/j.1365-4632.2004.02411.x</doi><idGroup><id type="unit" value="IJD2411"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="tocHeading1">Cameo</title></titleGroup><eventGroup><event type="firstOnline" date="2004-07-22"></event><event type="publishedOnlineFinalForm" date="2004-09-07"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.3 mode:FullText source:FullText result:FullText" date="2010-03-18"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-13"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-23"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="684">684</numbering><numbering type="pageLast" number="686">686</numbering></numberingGroup><correspondenceTo> Hugo N. Cabrera, <sc>md</sc> Hospital Alejandro Posadas Servicio de Dermatologia (1 piso A) Avenue Illia y Marconi (1694) El Palomar Buenos Aires Argentina E‐mail: <email>hugocabrera20@yahoo.com</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:IJD.IJD2411.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="0"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="13"></count><count type="wordTotal" number="1332"></count></countGroup><titleGroup><title type="main">Prolidase deficiency: case reports of two Argentinian brothers</title><title type="shortAuthors"><i>Cabrera</i> et al.</title><title type="short">Prolidase deficiency</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" corresponding="yes"><personName><givenNames>Hugo N.</givenNames><familyName>Cabrera</familyName><degrees>MD</degrees></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>Patricia Della</givenNames><familyName>Giovanna</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>Natalia F.</givenNames><familyName>Bozzini</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>Antonella</givenNames><familyName>Forlino</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="AR"><unparsedAffiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><section xml:id="abs1-1"><title type="main">Case 1</title><p>A 28‐year‐old man presented with his first leg ulcer at the age of 10 years. With regard to the family history, there was no consanguinity between the parents, and the patient had a brother with similar findings. He had frequent infections in childhood, such as otitis media, tuberculosis, and septic arthritis. At the age of 11 years, he showed photosensitivity, malar erythema, and positive antinuclear antibody test (1 : 40), and systemic lupus erythematosus was diagnosed (<link href="#f1">Fig. 1</link>). This disease was later ruled out because diagnostic criteria were not present.</p><figure xml:id="f1"><label>1</label><mediaResourceGroup><mediaResource alt="image" href="urn:x-wiley:00119059:media:IJD2411:IJD_2411_f1"></mediaResource><mediaResource alt="image" mimeType="image/gif" rendition="webOriginal" href=""></mediaResource><mediaResource alt="image" mimeType="image/gif" rendition="webLoRes" href=""></mediaResource></mediaResourceGroup><caption><p>Photosensitivity and malar erythema at the age of 11 years (Case 1)</p></caption></figure><p>At the age of 12 years, the ulcers worsened and did not respond to different treatments (antimicrobials, prednisone), and a diagnosis of pyoderma gangrenosum was suggested. Nevertheless, histopathology rejected such a diagnosis. The disease progressed until the patient presented again to our department.</p><p>On examination, the ulcers were located on both legs and thighs, had a polygonal form, elevated borders, and necrotic base (<link href="#f2">Fig. 2</link>). They showed edema and induration with multiple scars. Dystrophic nails, saddle nose, hypertelorism, syndactyly, obesity, and deformity of the auricle were observed. Laboratory analysis revealed iron deficiency anemia (hematocrit, 30%), an erythrocyte sedimentation rate of 120 mm/h, an elevated gammaglobulin level (3.79 g%), and an elevated immunoglobulin E (IgE) (3285 U/L). Skin cultures were negative. The rest of the laboratory studies were normal (creatinine, glucose, C3, C4, negative HIV, and normal abdominal examination). The evaluation of cellular and humoral immunity showed normal results; chromosome studies disclosed no abnormalities.</p><figure xml:id="f2"><label>2</label><mediaResourceGroup><mediaResource alt="image" href="urn:x-wiley:00119059:media:IJD2411:IJD_2411_f2"></mediaResource><mediaResource alt="image" mimeType="image/gif" rendition="webOriginal" href=""></mediaResource><mediaResource alt="image" mimeType="image/gif" rendition="webLoRes" href=""></mediaResource></mediaResourceGroup><caption><p>Polygonal and deep ulcers on the left thigh (Case 1)</p></caption></figure><p>A skin biopsy showed no specific abnormalities, except fibroblastic proliferation, inflammation, and ulcers that infiltrated the hypodermis. No signs of vasculitis were found. Multiple histologic analyses had been performed throughout the patient's life without any different findings.</p><p>Aliquots of urine from the patient and controls were analyzed by capillary zone electrophoresis (CZE) according to the method proposed by Zanaboni <i>et al</i>. (Zanaboni G, Grimm KM, Dyne KM, <i>et al.</i> Use of capillary zone electrophoresis for analysis of iminodipeptides in urine of prolidase‐deficient patients. <i>J Chromatogr B</i> 1996; <b>683:</b> 97–107.) The presence of a large amount of dipeptides, normally absent from control samples, was detected in the patient.</p><p>There is no specific or effective treatment for prolidase deficiency, but the patient received oral and topical antimicrobials, oral prednisone, 1 mg/kg/day, and thalidomide, 200 mg/day, for 8 months in order to decrease the size of the ulcers and to improve his life quality. Unfortunately, treatment failed.</p></section><section xml:id="abs1-2"><title type="main">Case 2</title><p>The 23‐year‐old younger brother showed his first lesion at the age of 8 years. He had smaller leg ulcers than his brother, but they were pruriginous (<link href="#f3">Fig. 3</link>). The round ulcers of 2–3 cm in diameter were on the inner part of the thighs. Laboratory analysis revealed hypergammaglobulinemia (26.3 g%), an erythrocyte sedimentation rate of 58 mm/h, splenomegaly, and elevated iminodipeptides in the urine. The evaluation of humoral and cellular immunity showed normal results. Skin biopsy showed no specific abnormalities, but fibrosis and perivascular inflammatory changes were present.</p><figure xml:id="f3"><label>3</label><mediaResourceGroup><mediaResource alt="image" href="urn:x-wiley:00119059:media:IJD2411:IJD_2411_f3"></mediaResource><mediaResource alt="image" mimeType="image/gif" rendition="webOriginal" href=""></mediaResource><mediaResource alt="image" mimeType="image/gif" rendition="webLoRes" href=""></mediaResource></mediaResourceGroup><caption><p>Rounded ulcers on the left thigh of the younger brother (Case 2)</p></caption></figure><p>He was treated with topical antimicrobials, cortisone, and thalidomide, 200 mg/day, for 8 months without response.</p></section></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Prolidase deficiency: case reports of two Argentinian brothers</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Prolidase deficiency</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Prolidase deficiency: case reports of two Argentinian brothers</title></titleInfo><name type="personal"><namePart type="given">Hugo N.</namePart><namePart type="family">Cabrera</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</affiliation><affiliation>E-mail: hugocabrera20@yahoo.com</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Patricia Della</namePart><namePart type="family">Giovanna</namePart><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Natalia F.</namePart><namePart type="family">Bozzini</namePart><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonella</namePart><namePart type="family">Forlino</namePart><affiliation>From the Dermatology Department, “Prof. Dr A. Posadas” Hospital, Buenos Aires, Argentina</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy"></genre><originInfo><publisher>Blackwell Science Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2004-09</dateIssued><copyrightDate encoding="w3cdtf">2004</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">3</extent><extent unit="references">13</extent><extent unit="words">1332</extent></physicalDescription><abstract>A 28‐year‐old man presented with his first leg ulcer at the age of 10 years. With regard to the family history, there was no consanguinity between the parents, and the patient had a brother with similar findings. He had frequent infections in childhood, such as otitis media, tuberculosis, and septic arthritis. At the age of 11 years, he showed photosensitivity, malar erythema, and positive antinuclear antibody test (1 : 40), and systemic lupus erythematosus was diagnosed (Fig. 1). This disease was later ruled out because diagnostic criteria were not present. At the age of 12 years, the ulcers worsened and did not respond to different treatments (antimicrobials, prednisone), and a diagnosis of pyoderma gangrenosum was suggested. Nevertheless, histopathology rejected such a diagnosis. The disease progressed until the patient presented again to our department. On examination, the ulcers were located on both legs and thighs, had a polygonal form, elevated borders, and necrotic base (Fig. 2). They showed edema and induration with multiple scars. Dystrophic nails, saddle nose, hypertelorism, syndactyly, obesity, and deformity of the auricle were observed. Laboratory analysis revealed iron deficiency anemia (hematocrit, 30%), an erythrocyte sedimentation rate of 120 mm/h, an elevated gammaglobulin level (3.79 g%), and an elevated immunoglobulin E (IgE) (3285 U/L). Skin cultures were negative. The rest of the laboratory studies were normal (creatinine, glucose, C3, C4, negative HIV, and normal abdominal examination). The evaluation of cellular and humoral immunity showed normal results; chromosome studies disclosed no abnormalities. A skin biopsy showed no specific abnormalities, except fibroblastic proliferation, inflammation, and ulcers that infiltrated the hypodermis. No signs of vasculitis were found. Multiple histologic analyses had been performed throughout the patient's life without any different findings. Aliquots of urine from the patient and controls were analyzed by capillary zone electrophoresis (CZE) according to the method proposed by Zanaboni et al. (Zanaboni G, Grimm KM, Dyne KM, et al. Use of capillary zone electrophoresis for analysis of iminodipeptides in urine of prolidase‐deficient patients. J Chromatogr B 1996; 683: 97–107.) The presence of a large amount of dipeptides, normally absent from control samples, was detected in the patient. There is no specific or effective treatment for prolidase deficiency, but the patient received oral and topical antimicrobials, oral prednisone, 1 mg/kg/day, and thalidomide, 200 mg/day, for 8 months in order to decrease the size of the ulcers and to improve his life quality. Unfortunately, treatment failed.</abstract><abstract>The 23‐year‐old younger brother showed his first lesion at the age of 8 years. He had smaller leg ulcers than his brother, but they were pruriginous (Fig. 3). The round ulcers of 2–3 cm in diameter were on the inner part of the thighs. Laboratory analysis revealed hypergammaglobulinemia (26.3 g%), an erythrocyte sedimentation rate of 58 mm/h, splenomegaly, and elevated iminodipeptides in the urine. The evaluation of humoral and cellular immunity showed normal results. Skin biopsy showed no specific abnormalities, but fibrosis and perivascular inflammatory changes were present. He was treated with topical antimicrobials, cortisone, and thalidomide, 200 mg/day, for 8 months without response.</abstract><relatedItem type="host"><titleInfo><title>International Journal of Dermatology</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0011-9059</identifier><identifier type="eISSN">1365-4632</identifier><identifier type="DOI">10.1111/(ISSN)1365-4632</identifier><identifier type="PublisherID">IJD</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>43</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>684</start><end>686</end><total>3</total></extent></part></relatedItem><identifier type="istex">CC8F2A164188D45E5E69DB974432356D557D720F</identifier><identifier type="DOI">10.1111/j.1365-4632.2004.02411.x</identifier><identifier type="ArticleID">IJD2411</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Science Ltd</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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