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[PMID]:28538898
[Au] Autor:Bunjes BG; Fernandes MDCF
[Ad] Endereço:Department of Clinical Medicine of the Escola Paulista de Medicina - Universidade Federal de São Paulo (UNIFESP) - São Paulo (SP), Brazil.
[Ti] Título:Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
[So] Source:An Bras Dermatol;92(2):273-274, 2017 Mar-Apr.
[Is] ISSN:1806-4841
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. In this paper we will discuss a case report of this syndrome and its relation with a dermatological finding.
[Mh] Termos MeSH primário: Síndrome da Unha-Patela/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Joelho/anormalidades
Joelho/diagnóstico por imagem
Masculino
Síndrome da Unha-Patela/diagnóstico por imagem
Unhas Malformadas/etiologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170525
[St] Status:MEDLINE


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[PMID]:27109743
[Au] Autor:Figueroa-Silva O; Vicente A; Agudo A; Baliu-Piqué C; Gómez-Armayones S; Aldunce-Soto MJ; Inarejos Clemente EJ; Navallas Irujo M; Gutiérrez de la Iglesia D; González-Enseñat MA
[Ad] Endereço:Department of Dermatology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
[Ti] Título:Nail-patella syndrome: report of 11 pediatric cases.
[So] Source:J Eur Acad Dermatol Venereol;30(9):1614-7, 2016 Sep.
[Is] ISSN:1468-3083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital. METHODS: We retrospectively reviewed our clinical database of 11 patients with proven diagnosis of NPS from 1977 to 2014. Clinical and radiological features were assessed. RESULTS: Eleven children (seven male/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0-11 years). Five patients had a family history of NPS. All patients had nail abnormalities (100%), the most frequent finding being hyponychia. Triangular lunulae were observed in four patients. The knee was the most commonly affected joint, aplasia or hypoplasia of the patella being the most usual findings. Only one patient presented renal involvement. The genetic study revealed three different LMX1B mutations. CONCLUSION: Nail-patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the NPS.
[Mh] Termos MeSH primário: Síndrome da Unha-Patela/diagnóstico
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Síndrome da Unha-Patela/genética
Síndrome da Unha-Patela/patologia
Estudos Retrospectivos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160426
[St] Status:MEDLINE
[do] DOI:10.1111/jdv.13683


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[PMID]:27037430
[Au] Autor:Tigchelaar S; Rooy Jd; Hannink G; Koëter S; van Kampen A; Bongers E
[Ad] Endereço:Canisius-Wilhelmina Ziekenhuis, Department of Orthopaedic Surgery, P.O. Box 9015, 6500 GS Nijmegen, The Netherlands.
[Ti] Título:Radiological characteristics of the knee joint in nail patella syndrome.
[So] Source:Bone Joint J;98-B(4):483-9, 2016 Apr.
[Is] ISSN:2049-4408
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations. PATIENTS AND METHODS: Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification. RESULTS: Patellar aplasia was present in 4/90 (4%), and patellar hypoplasia in 77/90 (86%) of patients. The prevailing patellar shapes were type III, type IV and Hunter's cap. No patellar shape genotype-phenotype association could be found. The malformations of the distal femur comprised shortening of the lateral femoral condyle in 46 out of 84 patients (55%), with a prominent anterior surface of the lateral femoral condyle in 47 out of 84 patients (56%) and a flat anterior surface of the medial femoral condyle in 78 out of 85 patients (92%). The trochlea was type A1 according to the Dejour classification in 79 out of 85 patients (93%). CONCLUSION: An easily recognisable characteristic quartet of malformations consisting of patellar aplasiaor hypoplasia and the malformations of the distal femur was found in 22 out of 81 patients (27%), with the majority displaying at least three malformations. TAKE HOME MESSAGE: The distinct malformations of the knee in nail patella syndrome are easily recognisable on conventional radiographs and lead to the correct interpretation of the aberrant morphology which is essential in the treatment of these patellofemoral disorders.
[Mh] Termos MeSH primário: Artrografia/métodos
Articulação do Joelho/diagnóstico por imagem
Síndrome da Unha-Patela/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Patela/diagnóstico por imagem
Estudos Prospectivos
Índice de Gravidade de Doença
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1608
[Cu] Atualização por classe:161126
[Lr] Data última revisão:
161126
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160403
[St] Status:MEDLINE
[do] DOI:10.1302/0301-620X.98B4.37025


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[PMID]:26810100
[Au] Autor:Andreoli SP
[Ad] Endereço:Division of Pediatric Nephrology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana.
[Ti] Título:50 Years Ago in The Journal of Pediatrics: The Nail-Patella Syndrome: Clinical and Genetic Aspects of 5 Kindreds with 38 Affected Family Members.
[So] Source:J Pediatr;169:43, 2016 Feb.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome da Unha-Patela/diagnóstico
Síndrome da Unha-Patela/genética
[Mh] Termos MeSH secundário: Criança
História do Século XX
Seres Humanos
Pediatria/história
Publicações Periódicas como Assunto/história
[Pt] Tipo de publicação:HISTORICAL ARTICLE; JOURNAL ARTICLE
[Em] Mês de entrada:1606
[Cu] Atualização por classe:160126
[Lr] Data última revisão:
160126
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160127
[St] Status:MEDLINE


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[PMID]:26775773
[Au] Autor:Wofford J; Fenves AZ; Jackson JM; Kimball AB; Menter A
[Ad] Endereço:Department of Dermatology, Baylor University Medical Center, Dallas, Texas.
[Ti] Título:The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.
[So] Source:J Am Acad Dermatol;74(2):231-44; quiz 245-6, 2016 Feb.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the need for dermatologists in practice or in clinical training to be aware of these associations. Part I of this 2-part continuing medical education article reviews the genetic syndromes with both renal and cutaneous involvement that are most important for the dermatologist to be able to identify, manage, and appropriately refer to nephrology colleagues. Part II reviews the inflammatory syndromes with relevant renal manifestations and therapeutic agents commonly used by dermatologists that have drug-induced effects on or require close consideration of renal function. In addition, we will likewise review therapeutic agents commonly used by nephrologists that have drug-induced effects on the skin that dermatologists are likely to encounter in clinical practice. In both parts of this continuing medical education article, we discuss diagnosis, management, and appropriate referral to our nephrology colleagues in the context of each nephrocutaneous association. There are a significant number of dermatoses associated with renal abnormalities and disease, emphasizing the need for dermatologists to be keenly aware of their presence in order to avoid overlooking important skin conditions with potentially devastating renal complications. This review discusses important nephrocutaneous disease associations with recommendations for the appropriate urgency of referral to nephrology colleagues for diagnosis, surveillance, and early management of potential renal sequelae.
[Mh] Termos MeSH primário: Doenças Genéticas Inatas/genética
Nefropatias/genética
Leiomiomatose/genética
Dermatopatias/genética
Neoplasias Cutâneas/genética
Neoplasias Uterinas/genética
Doença de von Hippel-Lindau/genética
[Mh] Termos MeSH secundário: Síndrome de Beckwith-Wiedemann/complicações
Síndrome de Beckwith-Wiedemann/genética
Síndrome de Beckwith-Wiedemann/terapia
Síndrome de Birt-Hogg-Dubé/complicações
Síndrome de Birt-Hogg-Dubé/genética
Síndrome de Birt-Hogg-Dubé/terapia
Doença de Fabry/complicações
Doença de Fabry/genética
Doença de Fabry/terapia
Doenças Genéticas Inatas/terapia
Síndrome do Hamartoma Múltiplo/complicações
Síndrome do Hamartoma Múltiplo/genética
Síndrome do Hamartoma Múltiplo/terapia
Seres Humanos
Leiomiomatose/complicações
Leiomiomatose/terapia
Mutação
Síndrome da Unha-Patela/complicações
Síndrome da Unha-Patela/genética
Síndrome da Unha-Patela/terapia
Síndromes Neoplásicas Hereditárias
Neurofibromatose 1/complicações
Neurofibromatose 1/genética
Neurofibromatose 1/terapia
Neoplasias Cutâneas/complicações
Neoplasias Cutâneas/terapia
Esclerose Tuberosa/complicações
Esclerose Tuberosa/genética
Esclerose Tuberosa/terapia
Síndrome de Turner/complicações
Síndrome de Turner/genética
Síndrome de Turner/terapia
Neoplasias Uterinas/complicações
Neoplasias Uterinas/terapia
Doença de von Hippel-Lindau/complicações
Doença de von Hippel-Lindau/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1605
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160119
[St] Status:MEDLINE


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[PMID]:25898926
[Au] Autor:Ghoumid J; Petit F; Holder-Espinasse M; Jourdain AS; Guerra J; Dieux-Coeslier A; Figeac M; Porchet N; Manouvrier-Hanu S; Escande F
[Ad] Endereço:Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France.
[Ti] Título:Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
[So] Source:Eur J Hum Genet;24(1):44-50, 2016 Jan.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Nail-Patella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. Skeletal features include dysplastic patellae and iliac horns, as well as scapula and elbow dysplasia. Nephropathy and glaucoma or intra-ocular hypertension can sometimes be present. NPS is due to variants affecting function in LMX1B, which encodes a LIM-homeodomain protein critical for limb, kidney and eye development. We describe the phenotype and the molecular data of 55 index patients and their 39 relatives presenting with typical NPS. We identified 38 different LMX1B anomalies, 19 of which were not reported before. In our series, 9% of families are not carriers of a LMX1B genomic alteration after extensive study of the coding and non-coding regions of the gene. One of the families showed no linkage to the LMX1B locus, raising the hypothesis of a genetic heterogeneity.
[Mh] Termos MeSH primário: Heterogeneidade Genética
Glaucoma/genética
Proteínas com Homeodomínio LIM/genética
Síndrome da Unha-Patela/genética
Nefrite Hereditária/genética
Hipertensão Ocular/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Éxons
Feminino
Expressão Gênica
Genes Dominantes
Glaucoma/patologia
Seres Humanos
Ílio/anormalidades
Ílio/metabolismo
Íntrons
Masculino
Meia-Idade
Síndrome da Unha-Patela/patologia
Unhas/metabolismo
Unhas/patologia
Nefrite Hereditária/patologia
Hipertensão Ocular/patologia
Patela/anormalidades
Patela/metabolismo
Fenótipo
Polimorfismo Genético
Escápula/anormalidades
Escápula/metabolismo
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (LIM homeobox transcription factor 1 beta); 0 (LIM-Homeodomain Proteins); 0 (Transcription Factors)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:170101
[Lr] Data última revisão:
170101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150423
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2015.77


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[PMID]:26634378
[Au] Autor:Tong SY; Luk HM; Tong TM; Lo IF
[Ad] Endereço:Clinical Genetic Service, Department of Health, Hong Kong.
[Ti] Título:The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia.
[So] Source:Hong Kong Med J;21(6):573.e3-5, 2015 Dec.
[Is] ISSN:1024-2708
[Cp] País de publicação:China
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome da Unha-Patela/diagnóstico
Unhas/patologia
[Mh] Termos MeSH secundário: Artralgia/genética
Seres Humanos
Joelho/fisiopatologia
Masculino
Meia-Idade
Doenças da Unha/genética
Síndrome da Unha-Patela/complicações
Síndrome da Unha-Patela/genética
Polegar
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1609
[Cu] Atualização por classe:161020
[Lr] Data última revisão:
161020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151205
[St] Status:MEDLINE
[do] DOI:10.12809/hkmj154728


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[PMID]:26596417
[Au] Autor:Tigchelaar S; Lenting A; Bongers EM; van Kampen A
[Ad] Endereço:Departments of Orthopaedic Surgery and Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. Electronic address: siebren_tigchelaar@outlook.com.
[Ti] Título:Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.
[So] Source:Orthop Traumatol Surg Res;101(8):959-62, 2015 Dec.
[Is] ISSN:1877-0568
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patellofemoral instability and dysfunction are frequent symptoms in Nail patella syndrome (NPS). In this article, the first large series of NPS patients is presented in which these knee symptoms were assessed using validated outcome scores. Additionally, the need for surgical interventions, percentage of patients who received surgical treatment and patient reported outcomes are reported. METHODS: A questionnaire based survey was conducted in 139 Dutch NPS patients. Symptoms of the knees were assessed by the Knee injury and Osteoarthritis Outcome Score (KOOS) and Kujala knee score. The questionnaire addressed whether surgical intervention was currently considered, history of past surgeries, type of surgical procedures performed and results of these procedures. RESULTS: Response rate was 74%. Mean KOOS (73.04) and Kujala (74.01) scores showed a wide range and variability between patients. Patellofemoral instability was present in 48.5% of patients. Surgical intervention was currently considered by 12% of patients. Their KOOS and Kujala scores were significantly lower compared to those not considering surgery and they experienced more patellar instability. Surgery was performed on 31 knees in 23 patients. KOOS and Kujala scores were lower in surgically treated versus nonoperated patients but no difference in patellar instability was present. An improvement in pain in 87% and in function in 30% of knees was reported after surgery. Patient satisfaction with the surgical results was 61% and 10% was dissatisfied. Patellar realignment procedures showed similar results, although persistent patellar instability was reported in 40% of patients, not different from nonoperated patients. CONCLUSIONS: Knee symptoms in NPS patients vary widely, with patellar instability present in nearly half of the patients. Although surgical treatment appears unfavourable as surgically treated patients have lower KOOS and Kujala scores, the patient reported surgical results are generally good with a high patient satisfaction. LEVEL OF EVIDENCE: Level IV.
[Mh] Termos MeSH primário: Instabilidade Articular/etiologia
Instabilidade Articular/cirurgia
Síndrome da Unha-Patela/complicações
Síndrome da Unha-Patela/cirurgia
Luxação Patelar/etiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Feminino
Seres Humanos
Traumatismos do Joelho
Articulação do Joelho/fisiopatologia
Articulação do Joelho/cirurgia
Masculino
Meia-Idade
Osteoartrite do Joelho
Dor/etiologia
Patela/cirurgia
Luxação Patelar/cirurgia
Satisfação do Paciente
Índice de Gravidade de Doença
Inquéritos e Questionários
Avaliação de Sintomas
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1607
[Cu] Atualização por classe:151217
[Lr] Data última revisão:
151217
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151125
[St] Status:MEDLINE


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[PMID]:26042812
[Au] Autor:Neri I; Piccolo V; Balestri R; Piraccini BM; Patrizi A
[Ad] Endereço:Department of Specialized, Clinical and Experimental Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.
[Ti] Título:Median nail damage in nail-patella syndrome associated with triangular lunulae.
[So] Source:Br J Dermatol;173(6):1559-61, 2015 Dec.
[Is] ISSN:1365-2133
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome da Unha-Patela/genética
Unhas Malformadas/patologia
[Mh] Termos MeSH secundário: Adulto
Pré-Escolar
Feminino
Dedos
Seres Humanos
Masculino
Síndrome da Unha-Patela/patologia
Unhas Malformadas/genética
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1609
[Cu] Atualização por classe:151228
[Lr] Data última revisão:
151228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150605
[St] Status:MEDLINE
[do] DOI:10.1111/bjd.13942


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[PMID]:26025008
[Au] Autor:Al-Dawsari N; Al-Mokhadam A; Al-Abdulwahed H; Al-Sannaa N
[Ad] Endereço:Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia Najla.aldawsari@gmail.com.
[Ti] Título:Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
[So] Source:J Cutan Med Surg;19(6):595-9, 2015 Nov-Dec.
[Is] ISSN:1203-4754
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder with a variable interfamilial and intrafamilial clinical expressivity and penetrance. It is caused by loss-of-function heterozygous mutation in the LIM-homeodomain transcription factor (LMX1B) located on chromosome 9q. The pleiotropic LMB1X gene, a member of the homeogene family, is involved in the development of glomerular basement membrane, dorsoventral limb structures, along with the nails and the anterior segment of the eye. OBJECTIVE: Here, we report a Saudi Arab consanguineous family with 2 affected sisters presented with the typical nail changes of NPS. METHODS: DNA samples were collected from the sisters and their parents after consent. RESULTS: Both sisters were found to be homozygous for a previously described disease-causing mutation (c.268C>T) at the (LMX1B) gene. Both of the phenotypically normal parents were confirmed to be heterozygous for the same mutation. CONCLUSION: This finding supports the autosomal recessive mode of inheritance in this family.
[Mh] Termos MeSH primário: Árabes/genética
Padrões de Herança/genética
Síndrome da Unha-Patela/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Síndrome da Unha-Patela/diagnóstico por imagem
Síndrome da Unha-Patela/patologia
Linhagem
Radiografia
Arábia Saudita
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1512
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150531
[St] Status:MEDLINE
[do] DOI:10.1177/1203475415588659



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