PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.29021/spdv.69.3.89 |
Resumo: | Prolidase deficiency is a rare, autosomal recessive disease resulting from a mutation of the prolidase gene (PEPD) located on chromosome 19. The deficiency of this enzyme impairs proline recycling and consequently the synthesis of collagen. This defect may be asymptomatic or associated with different clinical manifestations, being the most frequently reported chronic skin ulcers, recurrent infections, hepatosplenomegaly, mental retardation and a cha- racteristic facies, which commonly emerge during pediatric age. The authors describe a case of a 14-year-old boy with the diagnosis of prolidase deficiency, who was sent to the department of Pediatric Dermatology due to the appearance of an ulcer in the external maleolar region of the left foot. Surgical debridement was performed and he started treatment with 5% glycine and 5% proline ointment. Complete healing one month later was observed.KEYWORDS – Dipeptidases, Deficiency; Leg Ulcer. |
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PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGEDEFICIÊNCIA DE PROLIDASE – UMA CAUSA RARA DE ÚLCERAS DE PERNA EM IDADE PEDIáTRICAProlidase deficiency is a rare, autosomal recessive disease resulting from a mutation of the prolidase gene (PEPD) located on chromosome 19. The deficiency of this enzyme impairs proline recycling and consequently the synthesis of collagen. This defect may be asymptomatic or associated with different clinical manifestations, being the most frequently reported chronic skin ulcers, recurrent infections, hepatosplenomegaly, mental retardation and a cha- racteristic facies, which commonly emerge during pediatric age. The authors describe a case of a 14-year-old boy with the diagnosis of prolidase deficiency, who was sent to the department of Pediatric Dermatology due to the appearance of an ulcer in the external maleolar region of the left foot. Surgical debridement was performed and he started treatment with 5% glycine and 5% proline ointment. Complete healing one month later was observed.KEYWORDS – Dipeptidases, Deficiency; Leg Ulcer.A deficiência de prolidase (DP) é uma condição rara, autossómica recessiva, que resulta de uma muta- ção no gene da prolidase (PEPD), localizado no cromossoma 19. A deficiência desta enzima diminui a reciclagem de prolina e, consequentemente, a síntese de colagénio. Este defeito pode ser assintomático ou estar associado a mani- festações clínicas, tais como úlceras crónicas dos membros inferiores, infecções recorrentes, hepato-esplenomegalia, oligofrenia e fácies evocativa, as quais surgem habitualmente em idade pediátrica. Os autores descrevem o caso de uma criança de 14 anos de idade, com o diagnóstico de deficiência de prolidase, enviado à consulta de Dermatolo- gia Pediátrica pelo aparecimento de úlcera na região maleolar lateral do pé esquerdo. Foi realizado desbridamento cirúrgico e encetada a aplicação diária de manipulado de glicina e prolina (ambas a 5%) em vaselina purificada, tendo-se observado a cicatrização da lesão ao fim de 1 mês.PALAVRAS-CHAVE – Deficiência de Prolidase; Úlcera de Perna.Sociedade Portuguesa de Dermatologia e Venereologia2011-09-28T00:00:00Zjournal articleinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.29021/spdv.69.3.89oai:ojs.revista.spdv.com.pt:article/89Journal of the Portuguese Society of Dermatology and Venereology; Vol 69 No 3 (2011): Julho - Setembro; 485Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 69 n. 3 (2011): Julho - Setembro; 4852182-24092182-2395reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://revista.spdv.com.pt/index.php/spdv/article/view/89https://doi.org/10.29021/spdv.69.3.89https://revista.spdv.com.pt/index.php/spdv/article/view/89/87Cruz, Maria JoãoMota, AlbertoBaudrier, TeresaSilva, ElisaEloy, CatarinaAzevedo, Filomenainfo:eu-repo/semantics/openAccess2022-10-06T12:34:40Zoai:ojs.revista.spdv.com.pt:article/89Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:10:41.001678Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE DEFICIÊNCIA DE PROLIDASE – UMA CAUSA RARA DE ÚLCERAS DE PERNA EM IDADE PEDIáTRICA |
title |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE |
spellingShingle |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE Cruz, Maria João |
title_short |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE |
title_full |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE |
title_fullStr |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE |
title_full_unstemmed |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE |
title_sort |
PROLIDASE DEFICIENCY – A RARE CAUSE OF LEG ULCERS IN PEDIATRIC AGE |
author |
Cruz, Maria João |
author_facet |
Cruz, Maria João Mota, Alberto Baudrier, Teresa Silva, Elisa Eloy, Catarina Azevedo, Filomena |
author_role |
author |
author2 |
Mota, Alberto Baudrier, Teresa Silva, Elisa Eloy, Catarina Azevedo, Filomena |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Cruz, Maria João Mota, Alberto Baudrier, Teresa Silva, Elisa Eloy, Catarina Azevedo, Filomena |
description |
Prolidase deficiency is a rare, autosomal recessive disease resulting from a mutation of the prolidase gene (PEPD) located on chromosome 19. The deficiency of this enzyme impairs proline recycling and consequently the synthesis of collagen. This defect may be asymptomatic or associated with different clinical manifestations, being the most frequently reported chronic skin ulcers, recurrent infections, hepatosplenomegaly, mental retardation and a cha- racteristic facies, which commonly emerge during pediatric age. The authors describe a case of a 14-year-old boy with the diagnosis of prolidase deficiency, who was sent to the department of Pediatric Dermatology due to the appearance of an ulcer in the external maleolar region of the left foot. Surgical debridement was performed and he started treatment with 5% glycine and 5% proline ointment. Complete healing one month later was observed.KEYWORDS – Dipeptidases, Deficiency; Leg Ulcer. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-09-28T00:00:00Z |
dc.type.driver.fl_str_mv |
journal article info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.29021/spdv.69.3.89 oai:ojs.revista.spdv.com.pt:article/89 |
url |
https://doi.org/10.29021/spdv.69.3.89 |
identifier_str_mv |
oai:ojs.revista.spdv.com.pt:article/89 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://revista.spdv.com.pt/index.php/spdv/article/view/89 https://doi.org/10.29021/spdv.69.3.89 https://revista.spdv.com.pt/index.php/spdv/article/view/89/87 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Dermatologia e Venereologia |
dc.source.none.fl_str_mv |
Journal of the Portuguese Society of Dermatology and Venereology; Vol 69 No 3 (2011): Julho - Setembro; 485 Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 69 n. 3 (2011): Julho - Setembro; 485 2182-2409 2182-2395 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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