Manifestaciones oftalmológicas del síndrome de Carney

Chinchurreta-Capote, A; Trueba, A. Alix; Hernández, Francisco José García; Piñas, P.; López, Susana; Tena, M.E.; Aznarez, N; Portillo, Elizabeth Mendoza; Castillon, L

doi:10.4321/s0365-66912006001200007

Cited by 6 publications

(9 citation statements)

References 6 publications

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“…The most common ophthalmologic manifestations are facial and palpebral lentigines, pigmented lesions of the caruncle or conjuntival semilunar fold and eyelid myxomas 27, 28 . There are some reports of pigmented schwannomas of the uvea 29 .…”

Section: Clinical Featuresmentioning

confidence: 99%

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Carney complex: an update

Correa¹,

Salpea²,

Stratakis³

2015

European Journal of Endocrinology

330

348

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Carney Complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22–24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment, and molecular etiology including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing’s syndrome.

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Section: Clinical Featuresmentioning

confidence: 99%

“…There are some reports of pigmented schwannomas of the uvea 29 . The differential diagnosis of pigmented lesions of the conjunctiva includes melanocytic nevus, melanosis (congenital or acquired), malignant melanoma or drug induce secondary pigmentation 28, 30 .…”

Section: Clinical Featuresmentioning

confidence: 99%

Carney complex: an update

Correa¹,

Salpea²,

Stratakis³

2015

European Journal of Endocrinology

330

348

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“…O Complexo de Carney tem herança autossômica dominante, penetrância e expressividade variável, ligada a dois loci: 17q22-24 e 2p16, não condicionando diferenças no fenótipo da doença 10 . O gene PPKAR1A (proteinkinase A type 1a regulatorysubunit) localizado na banda 24 do braço longo do cromossoma 17 (17q24) seria o responsável por originar a doença; ou seja, os casos de complexo de Carney têm sido associados a mutações nesse gene.…”

Section: Discussionunclassified

“…O gene PRKAR1A tem ação supressora tumoral, sendo responsável pela produção da subunidade reguladora tipo 1-alfa da proteína quinase A. Esta proteína está envolvida com importantes vias da sinalização endócrina. A subunidade reguladora tipo 1-alfa inibe a função da proteína quinase A, e a mutação de PRKAR1A origina uma subunidade com função praticamente nula, aumentando por conseqüência a sinalização intracelular da proteína quinase A levando à hiperatividade endócrina e formação de tumores 8,10 .…”

Section: Discussionunclassified

Carney complex sporadic with Schwannoma melanocytic and thyroid papillary carcinoma: case report

Coelho

Silva

2016

Rev. Med. (São Paulo)

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Complexo de Carney é uma forma rara de neoplasia endócrina múltipla familiar de herança autossômica dominante. Está associado à alteração de pigmentação cutânea e mucosa, doença nodular adrenal pigmentosa primária, mixomas cardíacos, cutâneos ou vaginais, adenomas hipofisários funcionantes, neoplasia testicular, adenoma ou carcinoma de tireóide e cistos ovarianos. Cerca de 70% dos indivíduos diagnosticados com Complexo de Carney têm pais afetados e 30% apresentam a forma esporádica da doença. O complexo de Carney esporádico é raro, o que dificulta ainda mais o diagnóstico. Apresentamos um caso de uma paciente de 24 anos com schwanoma de células fusiformes e carcinoma papilífero de tireóide, tais achados, remetem ao diagnóstico de suspeição de Complexo de Carney.

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“…The tumor did not recur or metastasize after almost 10 years of follow-up, and the patient died of unrelated causes. Molecular studies revealed a complex genome with multiple whole-chromosome losses including monosomy of chromosomes 1, 2 (including loss of CNC2 at 2p16), 14, 17 (including loss of a copy of PRAKA1 at 17q24.2), 18,19,21,22, and X. No monosomy 3 was observed.…”

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confidence: 99%

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome?

et al. 2020

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• Carney complex (CNC) is a rare autosomal dominant syndrome characterized by pigmented lesions of the skin, mucosa, myxomatous tumors and multiple other endocrine and non-endocrine neoplasms. • A number of ocular lesions have been described in patients with CNC. Novel Insights • This is the second reported case of uveal melanoma arising in a patient with CNC. • This case should raise awareness for the possibility of another tumor associated with Carney syndrome.

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Manifestaciones oftalmológicas del síndrome de Carney

Cited by 6 publications

References 6 publications

Carney complex: an update

Carney complex: an update

Carney complex sporadic with Schwannoma melanocytic and thyroid papillary carcinoma: case report

Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex – Another Rare Component of the Syndrome?

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