Síndrome de Proteus: relato de caso

Sene, Letícia Silva; Sales, Polyane de Oliveira; Chojniak, Rubens

doi:10.1016/j.ramb.2013.06.006

Cited by 4 publications

(8 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Proteus syndrome is characterized by malformations caused by excessive and multifocal growth of tissues, which results in progressive deformities including partial gigantism of the limbs, vascular malformations and organomegaly [4,5] . Most patients have normal neuropsychomotor development and a life expectancy of between 9 months and 29 years of age, depending on the severity of the abnormalities [6] .…”

Section: Discussionmentioning

confidence: 99%

“…The overgrowth most often affects an extremity but also commonly involves the skull or vertebrae [2] . The diagnosis is essentially clinical, and treatment is multidisciplinary and must include clinical and psychological support [3,4] . Surgical management should be directed towards functional improvement.…”

Section: Discussionmentioning

confidence: 99%

“…Symptoms of depression have been reported in about 23% of parents who have affected children [8] . The main causes of death are deep vein thrombosis, pulmonary thromboembolism and respiratory failure [1,4,5] , even in young children. Thus, because of the high incidence of deep vein thrombosis and pulmonary thromboembolism, it is recommended that antithrombotic prophylaxis is considered prior to surgery [2,5,7] .…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Proteus Syndrome: A Rare Case in An Adult Ward

Santos

Grácio

Pires

et al. 2021

European Journal of Case Reports in Internal Medicine

View full text Add to dashboard Cite

Proteus syndrome is an extremely rare disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissue, such as bone, fat or epidermal nevi, in a mosaic or patchy pattern. It has an estimated prevalence of less than 1/1,000,000 live births. The diagnosis can be difficult because the phenotypes of the patients are variable. Many individuals develop cutaneous capillary malformation and prominent varicosities (large and complex vascular malformations). Thus, Proteus syndrome patients are at risk of developing deep vein thrombosis and pulmonary embolism. The authors present the case of a patient with Proteus syndrome who was admitted because of pulmonary thromboembolism and presented hypertrophy of the left arm and left hemithorax.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Proteus Syndrome: A Rare Case in An Adult Ward

Santos

Grácio

Pires

et al. 2021

European Journal of Case Reports in Internal Medicine

View full text Add to dashboard Cite

show abstract

“…Differential diagnosis should be made with other congenital disorders, such as neurofibromatosis, Klippel-Trenaunay-Weber syndrome, Bannayan syndrome, Maffucci syndrome, and hemihyperplasia/lipomatosis syndrome. 1 , 4 , 6 …”

Section: Discussionmentioning

confidence: 99%

“…Proteus syndrome is a rare, congenital hamartomatous syndrome that causes asymmetric and disproportionate overgrowth of limbs, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. 1 , 2 …”

Section: Introductionmentioning

confidence: 99%

Proteus syndrome

Rocha

Estrella

Amaral

et al. 2017

An. Bras. Dermatol.

View full text Add to dashboard Cite

Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations.

show abstract

Síndrome de Proteus: uma abordagem diagnóstica, evolução clínica e revisão

Silva,

Venturini,

Paiva

et al. 2023

Braz. J. Hea. Rev.

View full text Add to dashboard Cite

Introdução: A Síndrome de Proteus é uma doença congênita extremamente rara com incidência baixa de 1/10.000.000. A síndrome apesar de ter uma origem genética ainda tem uma etiologia desconhecida, com diagnóstico clínico muito difícil devido a grande variedade de manifestações clínicas, dificultando também dessa forma o tratamento e acompanhamento. Apresentação do Caso: Um caso clínico de uma menina de 9 anos, caucasiana, originária do estado de Goiás, foi admitida no Centro Médico Regional devido a deformidades ósseas progressivas observadas desde seus 3 anos de idade. Seus pais têm 32 anos e não são parentes consanguíneos. O pré-natal e o período neonatal ocorreram sem intercorrências, e ela tem dois irmãos, ambos saudáveis. Até os 3 anos, seu desenvolvimento parecia típico, mas um crescimento acelerado e irregular foi notado posteriormente. Discussão: A doença se caracteriza por ter crescimento excessivo gerando assim malformações, como gigantismo parcial de membros, nevos pigmentados, tumores subcutâneos , macrocefalia e visceromegalias. Devido às várias manifestações o tratamento deve ser multidisciplinar, com suporte clínico de vários especialistas além do suporte psicológico devido às deformações que podem gerar. Conclusão: Portanto, a síndrome acarreta uma série de desafios desde o diagnóstico ao tratamento do paciente devido à raridade e as suas várias manifestações.

show abstract

Síndrome de Proteus: relato de caso

Cited by 4 publications

References 7 publications

Proteus Syndrome: A Rare Case in An Adult Ward

Proteus Syndrome: A Rare Case in An Adult Ward

Proteus syndrome

Síndrome de Proteus: uma abordagem diagnóstica, evolução clínica e revisão

Contact Info

Product

Resources

About