{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:11:02Z","timestamp":1758161462063,"version":"3.44.0"},"reference-count":19,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prolidase deficiency (PD) is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. It occurs due to the mutations in the prolidase gene (PEPD) that result in loss of prolidase activity. We reported here a child who had presented with features compatible with hyper-immunoglobulin E syndrome (HIES) like recurrent skin ulcers, recurrent infections, facial dysmorphism, retained primary teeth, and elevated levels of immunoglobulin E levels but with normal flow cytometric assays, which was later diagnosed as PD.<\/jats:p>","DOI":"10.1055\/s-0041-1741007","type":"journal-article","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T18:49:30Z","timestamp":1642013370000},"page":"200-204","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome"],"prefix":"10.53391","volume":"13","author":[{"given":"Aakash Chandran","family":"Chidambaram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiruthiga","family":"Sugumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selvamanojkumar","family":"Sundaravel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaikumar Govindaswamy","family":"Ramamoorthy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siddardha","family":"Bathula","sequence":"additional","affiliation":[{"name":"Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Usha R.","family":"Dutta","sequence":"additional","affiliation":[{"name":"Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/ajmg.1320190319","article-title":"Clinical and biochemical characteristics of prolidase deficiency in siblings","volume":"19","author":"B J Freij","year":"1984","journal-title":"Am J Med Genet"},{"issue":"08","key":"ref2","first-page":"759","article-title":"Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes","volume":"113","author":"S H Jackson","year":"1975","journal-title":"Can Med Assoc J"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/0002-9343(68)90016-8","article-title":"A syndrome resembling lathyrism associated with iminodipeptiduria","volume":"45","author":"S I Goodman","year":"1968","journal-title":"Am J Med"},{"key":"ref4","series-title":"Rook's Textbook of Dermatology, Part 6","first-page":"8","volume-title":"Genetic disorders of skin","author":"C Griffiths","year":"2016","edition":"9th ed."},{"issue":"09","key":"ref5","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1038\/s41436-021-01200-2","article-title":"Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases","volume":"23","author":"F Rossignol","year":"2021","journal-title":"Genet Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF01810368","article-title":"Biochemical and immunological studies on a family with prolidase deficiency","volume":"6","author":"R GF Gray","year":"1983","journal-title":"J Inherit Metab Dis"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1046\/j.1365-2133.1999.02681.x","article-title":"Squamous cell carcinoma of the leg in a patient with prolidase deficiency","volume":"140","author":"M Fimiani","year":"1999","journal-title":"Br J Dermatol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bone.2014.11.009","article-title":"Lack of prolidase causes a bone phenotype both in human and in mouse","volume":"72","author":"R Besio","year":"2015","journal-title":"Bone"},{"issue":"03","key":"ref9","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF00711826","article-title":"Immune function in prolidase deficiency","volume":"17","author":"M A Cleary","year":"1994","journal-title":"J Inherit Metab 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Dermatol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"53","DOI":"10.4103\/0019-5154.31927","article-title":"Prolidase deficiency","volume":"52","author":"Q Masood","year":"2007","journal-title":"Indian J Dermatol"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/0304-4165(75)90241-X","article-title":"Proline recycling during collagen metabolism as determined by concurrent I8O2- and 'H-labelling","volume":"381","author":"S H Jackson","year":"1975","journal-title":"Biochim Biophys Acta"},{"issue":"01","key":"ref16","doi-asserted-by":"crossref","first-page":"adv00002","DOI":"10.2340\/00015555-3324","article-title":"Ulceration in prolidase deficiency: successful treatment with anticoagulants","volume":"100","author":"K S\u00fc\u00dfmuth","year":"2020","journal-title":"Acta Derm Venereol"},{"issue":"01","key":"ref17","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1177\/1534734615570360","article-title":"A case of prolidase deficiency accompanying leg ulcers","volume":"14","author":"B Solak","year":"2015","journal-title":"Int J Low Extrem Wounds"},{"issue":"06","key":"ref18","first-page":"e14156","article-title":"Refractory leg ulcers in prolidase deficiency with antiphospholipid antibody positivity responding to aspirin-hydroxychloroquine-vitamin C combination therapy","volume":"33","author":"M Razmi T","year":"2020","journal-title":"Dermatol Ther (Heidelb)"},{"issue":"01","key":"ref19","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1546-0096-10-18","article-title":"Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review","volume":"10","author":"Y Butbul Aviel","year":"2012","journal-title":"Pediatr Rheumatol Online J"},{"issue":"07","key":"ref20","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1007\/s10875-021-01096-2","article-title":"Macrophage activation syndrome in a patient with prolidase deficiency: a rare 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