NAIL – PATELLA SYNDROME
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.69.2.613 |
Resumo: | Nail-Patella Syndrome (OMIN 161200) (Hereditary Onychodysplasia), first reported by Chatelain in 1820, is a rare polymalformative syndrome that affects tissues of both ecto and mesodermal origin. It is an inherited disorder, transmitted as an autosomal dominant trait, having the responsible gene been mapped to 9q34 and further characterized as encoding for a LIM-homeodomain protein that plays a pivotal role in the dorso-ventral patterning of tissues of the developing vertebrate limbs. Clinically, NPS classic features include hypoplastic or absent nails and patellae, joint abnormalities, iliac horns, pigmentary anomalies of the irides and nephropathy. Nail anomalies, usually present at birth, are highly evocative – hypoplastic or even absent nails on the first or second fingers and triangular-shaped lunulae – and allow, upon recognition, to prevent a delayed diagnosis and, as such, joint crippling deformities and renal failure that eventually develop, as patients age. The case of a 4 YO Caucasian boy bearing unstable gait, absent patellae, a PDD (Pervasive Developmental Disorder) meeting some Asperger`s Syndrome criteria and fingernail anomalies is reported. In this case it is noteworthy the sharp contrast between the extent of the dermatological findings and the absence or scarcity of both renal and orthopaedic alterations. In fact, not only no renal and hearing alterations were detected but, apart from the bilaterally absent patellae, a 5th finger clinodactily and a mild iris dyschromia, no further anomalies were found in this underdeveloped child, whose weight and height were in the 10th centile. |
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NAIL – PATELLA SYNDROMESÍNDROME UNHA-RÓTULANail-Patella SyndromeAbsent patellaeHypoplastic fingernailsTriangular lunulaeIris dyschromiaFinger clinodactilyAsperger`s syndromeDelayed developmentSíndrome Unha-RótulaAplasia das rótulasUnhas hipoplásicasLúnulas triangularesDiscromia das írisClinodactiliaSíndrome de AspergerAtraso do desenvolvimentoNail-Patella Syndrome (OMIN 161200) (Hereditary Onychodysplasia), first reported by Chatelain in 1820, is a rare polymalformative syndrome that affects tissues of both ecto and mesodermal origin. It is an inherited disorder, transmitted as an autosomal dominant trait, having the responsible gene been mapped to 9q34 and further characterized as encoding for a LIM-homeodomain protein that plays a pivotal role in the dorso-ventral patterning of tissues of the developing vertebrate limbs. Clinically, NPS classic features include hypoplastic or absent nails and patellae, joint abnormalities, iliac horns, pigmentary anomalies of the irides and nephropathy. Nail anomalies, usually present at birth, are highly evocative – hypoplastic or even absent nails on the first or second fingers and triangular-shaped lunulae – and allow, upon recognition, to prevent a delayed diagnosis and, as such, joint crippling deformities and renal failure that eventually develop, as patients age. The case of a 4 YO Caucasian boy bearing unstable gait, absent patellae, a PDD (Pervasive Developmental Disorder) meeting some Asperger`s Syndrome criteria and fingernail anomalies is reported. In this case it is noteworthy the sharp contrast between the extent of the dermatological findings and the absence or scarcity of both renal and orthopaedic alterations. In fact, not only no renal and hearing alterations were detected but, apart from the bilaterally absent patellae, a 5th finger clinodactily and a mild iris dyschromia, no further anomalies were found in this underdeveloped child, whose weight and height were in the 10th centile.A Síndrome Unha-Rótula ou Nail-Patella Syndrome (OMIN 161200) (Osteo-Onicodisplasia Hereditária), descrita pela primeira vez por Chatelain em 1820, é uma síndrome polimalformativa rara que afecta tecidos de origem ecto e mesodérmica. É condição hereditária, transmitida como traço autossómico dominante, tendo o gene responsável sido identificado (9q34) e caracterizado como codificando uma proteína que desempenha papel crítico no desenvolvimento padronizado dorso-ventral dos tecidos dos membros. Clinicamente, caracteriza-se por aplasia ou hipoplasia das unhas e rótulas, pela presença de exostoses nos ilíacos (“cornos ilíacos”), anomalias pigmentares na íris e nefropatia. As alterações ungueais, habitualmente presentes à nascença, são altamente evocadoras e permitem um diagnóstico precoce, como tal prevenindo o desenvolvimento ulterior de importantes limitações osteo-esqueléticas ou de insuficiência renal. É apresentado caso clínico de jovem de 4 anos, do sexo masculino, eurocaucasiano, com instabilidade na marcha e rótulas ausentes, uma perturbação do desenvolvimento preenchendo critérios para a Síndrome de Asperger e anomalias ungueais congénitas. Neste caso são dignos de registo o contraste nítido entre a extensão das alterações dermatológicas, a discreta expressão das anomalias ortopédicas e a inexistência de compromisso renal. Efectivamente, não apenas não tinha alterações renais ou auditivas como - para além da ausência das rótulas, de uma clinodactilia do 5º dedo das mãos e de uma ligeira discromia iridiana - nenhumas outras alterações foram detectadas numa criança com um óbvio atraso do desenvolvimento estato-ponderal.Sociedade Portuguesa de Dermatologia e Venereologia2011-06-23T00:00:00Zjournal articleinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.29021/spdv.69.2.613oai:ojs.revista.spdv.com.pt:article/613Journal of the Portuguese Society of Dermatology and Venereology; Vol 69 No 2 (2011): Abril / Junho; 255-259Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 69 n. 2 (2011): Abril / Junho; 255-2592182-24092182-2395reponame: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/613https://doi.org/10.29021/spdv.69.2.613https://revista.spdv.com.pt/index.php/spdv/article/view/613/435Tavares-Bello, RuiBaptista, JulianaSilvério, CristinaAraújo Pinheiro, Luisinfo:eu-repo/semantics/openAccess2022-10-06T12:34:59Zoai:ojs.revista.spdv.com.pt:article/613Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:10:58.473160Repositório 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 |
NAIL – PATELLA SYNDROME SÍNDROME UNHA-RÓTULA |
title |
NAIL – PATELLA SYNDROME |
spellingShingle |
NAIL – PATELLA SYNDROME Tavares-Bello, Rui Nail-Patella Syndrome Absent patellae Hypoplastic fingernails Triangular lunulae Iris dyschromia Finger clinodactily Asperger`s syndrome Delayed development Síndrome Unha-Rótula Aplasia das rótulas Unhas hipoplásicas Lúnulas triangulares Discromia das íris Clinodactilia Síndrome de Asperger Atraso do desenvolvimento |
title_short |
NAIL – PATELLA SYNDROME |
title_full |
NAIL – PATELLA SYNDROME |
title_fullStr |
NAIL – PATELLA SYNDROME |
title_full_unstemmed |
NAIL – PATELLA SYNDROME |
title_sort |
NAIL – PATELLA SYNDROME |
author |
Tavares-Bello, Rui |
author_facet |
Tavares-Bello, Rui Baptista, Juliana Silvério, Cristina Araújo Pinheiro, Luis |
author_role |
author |
author2 |
Baptista, Juliana Silvério, Cristina Araújo Pinheiro, Luis |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Tavares-Bello, Rui Baptista, Juliana Silvério, Cristina Araújo Pinheiro, Luis |
dc.subject.por.fl_str_mv |
Nail-Patella Syndrome Absent patellae Hypoplastic fingernails Triangular lunulae Iris dyschromia Finger clinodactily Asperger`s syndrome Delayed development Síndrome Unha-Rótula Aplasia das rótulas Unhas hipoplásicas Lúnulas triangulares Discromia das íris Clinodactilia Síndrome de Asperger Atraso do desenvolvimento |
topic |
Nail-Patella Syndrome Absent patellae Hypoplastic fingernails Triangular lunulae Iris dyschromia Finger clinodactily Asperger`s syndrome Delayed development Síndrome Unha-Rótula Aplasia das rótulas Unhas hipoplásicas Lúnulas triangulares Discromia das íris Clinodactilia Síndrome de Asperger Atraso do desenvolvimento |
description |
Nail-Patella Syndrome (OMIN 161200) (Hereditary Onychodysplasia), first reported by Chatelain in 1820, is a rare polymalformative syndrome that affects tissues of both ecto and mesodermal origin. It is an inherited disorder, transmitted as an autosomal dominant trait, having the responsible gene been mapped to 9q34 and further characterized as encoding for a LIM-homeodomain protein that plays a pivotal role in the dorso-ventral patterning of tissues of the developing vertebrate limbs. Clinically, NPS classic features include hypoplastic or absent nails and patellae, joint abnormalities, iliac horns, pigmentary anomalies of the irides and nephropathy. Nail anomalies, usually present at birth, are highly evocative – hypoplastic or even absent nails on the first or second fingers and triangular-shaped lunulae – and allow, upon recognition, to prevent a delayed diagnosis and, as such, joint crippling deformities and renal failure that eventually develop, as patients age. The case of a 4 YO Caucasian boy bearing unstable gait, absent patellae, a PDD (Pervasive Developmental Disorder) meeting some Asperger`s Syndrome criteria and fingernail anomalies is reported. In this case it is noteworthy the sharp contrast between the extent of the dermatological findings and the absence or scarcity of both renal and orthopaedic alterations. In fact, not only no renal and hearing alterations were detected but, apart from the bilaterally absent patellae, a 5th finger clinodactily and a mild iris dyschromia, no further anomalies were found in this underdeveloped child, whose weight and height were in the 10th centile. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-06-23T00:00:00Z |
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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.69.2.613 oai:ojs.revista.spdv.com.pt:article/613 |
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https://doi.org/10.29021/spdv.69.2.613 |
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oai:ojs.revista.spdv.com.pt:article/613 |
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por |
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por |
dc.relation.none.fl_str_mv |
https://revista.spdv.com.pt/index.php/spdv/article/view/613 https://doi.org/10.29021/spdv.69.2.613 https://revista.spdv.com.pt/index.php/spdv/article/view/613/435 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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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 2 (2011): Abril / Junho; 255-259 Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 69 n. 2 (2011): Abril / Junho; 255-259 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 |
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RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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