Cafe-au-lait spots as a clinical sign of syndromes

Carvalho, Adriana Amaral; Martelli, Daniella Reis Barbosa; Carvalho, Maria Fernanda Amaral; Swerts, Mário Sérgio Oliveira; Martelli, Hercílio

doi:10.33448/rsd-v10i9.17607

Cited by 5 publications

(5 citation statements)

References 52 publications

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“…Café-au-lait spots were another unusual finding in our patient, which are not typically associated in this condition. We found an isolated report describing this finding in RSTS 14…”

Section: Discussionmentioning

confidence: 56%

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in theCREBBPgene

et al. 2023

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Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in theCREBBPorEBP300genes.We present a patient with a hitherto unreported constellation of anterior segment abnormalities, including congenital glaucoma, congenital corneal keloid, cataract, and distinct facial and systemic features including a high-arched palate, low-set posteriorly rotated ears, Café-au-lait spots on the back, broad terminal phalanges of hands and feet, and bilateral cryptorchidism. The characteristic dysgenetic angle features and ultrasound biomicroscopic findings described in this case report show the occurrence of concomitant congenital keloid with glaucoma.Genetic testing revealed a heterozygous one-base pair duplication in exon 3 of theCREBBPgene (c.886dupC), a novel frameshift pathogenic mutation in theCREBBPgene that has not been previously reported in a clinical setting.

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“…Café-au-lait spots were another unusual finding in our patient, which are not typically associated in this condition. We found an isolated report describing this finding in RSTS 14…”

Section: Discussionmentioning

confidence: 56%

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in theCREBBPgene

et al. 2023

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“…A total of 60 syndromes associated with the presence of CALS are described 11 . Among them, craniofacial abnormalities can be part of the clinical phenotype in 45 syndromes.…”

Section: Resultsmentioning

confidence: 99%

“…Neurofibromatosis type 1 (NF1) is the disease with the highest incidence among all syndromes associated with CALS and one in which this association is well recognized and considered a diagnostic hallmark 2 . However, several other genetic syndromes are associated with café au lait spots, with a total of 60 syndromes described in the scientific literature 11 .…”

Section: Discussionmentioning

confidence: 99%

Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review

Carvalho

Ferraz

Martelli

et al. 2023

Rev. Assoc. Med. Bras.

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“…The borders may be smooth or irregular. Such lesions may appear in the first years of life or even at birth [ 26 ].…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

et al. 2023

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Background Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. Methods Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools. Results The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG. Conclusions NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.

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Cafe-au-lait spots as a clinical sign of syndromes

Cited by 5 publications

References 52 publications

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in theCREBBPgene

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in theCREBBPgene

Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

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