Glomuvenous Malformation in a Boy with Transposition of the Great Vessels: A Case Report and Review of Literature

Chen, Amy Y.-Y.; Eide, M.P.H. Melody J.; Shwayder, Tor

doi:10.1111/j.1525-1470.2008.00826.x

Cited by 8 publications

(11 citation statements)

References 34 publications

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“…A third patient with a large GVM had been diagnosed with hydrops fetalis at 36 weeks of gestation. Another GVM patient had transposition of the great vessels [Chen et al, 2009].…”

Section: Resultsmentioning

confidence: 99%

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Brouillard

Boon²,

Revençu³

et al. 2013

Mol Syndromol

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A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the definition of clinical features to distinguish GVMs from other venous anomalies. The variation in phenotype was also highlighted: from a single punctate blue dot to a large plaque-like lesion. In this study, we screened GLMN in a large cohort of patients to broaden the spectrum of mutations, define their frequency and search for possible genotype-phenotype correlations. Taking into account 6 families published by others, a mutation in GLMN has been found in 162 families. This represents 40 different mutations; the most frequent one being present in almost 45% of them. Expressivity varies largely, without a genotype/phenotype relationship. Among 381 individuals with a mutation, we discovered 37 unaffected carriers, implying a penetrance of 90%. As nonpenetrant individuals may transmit the disease to their descendants, knowledge on the mutational status is needed for appropriate genetic counseling.

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“…A third patient with a large GVM had been diagnosed with hydrops fetalis at 36 weeks of gestation. Another GVM patient had transposition of the great vessels [Chen et al, 2009].…”

Section: Resultsmentioning

confidence: 99%

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Brouillard

Boon²,

Revençu³

et al. 2013

Mol Syndromol

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“…Affected individuals and carriers have heterozygous germline mutations in the glomulin gene (GLMN) that cause a premature stop codon and a truncated glomulin protein. [2] According to Happle and Konig, [5] the plaque-type GVM, superimposed on the ordinary phenotype of this autosomal dominant disorder, is classified as a type two segmental manifestation caused by loss of heterozygosity in the embryo.…”

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confidence: 99%

“…They are mostly found on the trunk and vary in number from a few to hundreds. [2,3] Multiple GVMs can be subdivided into localized, disseminated, and congenital plaque-type forms. [3] This third and rare variant, in which category we include our case, was first described by Landthaler et al in 1990.…”

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confidence: 99%

“…Later in life, often during puberty, most patients develop new papules and nodules on distinct areas from those involved at birth. [2][3][4] The treatment of GVM largely depends on the number, extent, and location of the lesions. Treatment options include surgical excision, sclerotherapy, and laser therapy (ablative or pulsed dye).…”

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confidence: 99%

“…[1] Formerly known as glomus tumors or glomangiomas, those lesions have been renamed GVMs to stress the fact that they are not neoplastic. [2] GVMs are clinically classified as solitary or multiple. The former are the most common type and consist of solitary nodules that occur mostly in young adults, with female preponderance.…”

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confidence: 99%

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Multiple congenital vascular lesions in a child

Diamantino

VascoSerrão

João

et al. 2011

Indian J Dermatol Venereol Leprol

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Multiple congenital vascular lesions in a childSir, A 6-year-old girl was referred to our department for evaluation of vascular lesions on her left forearm and chest that had been noticed at birth. They were asymptomatic and gradually increased with her age. Otherwise the child was healthy and had no history of gastrointestinal bleeding or hematuria. The family history was negative for similar lesions.Physical examination of the left forearm showed an indurated and bluish plaque with overlying coalescent blue and violaceous macules and papules [ Figure 1a]. On the left supramammary region she had two purplish patches with telangiectatic vessels on their surface [ Figure 1b]. The lesions were partially compressible and nontender to palpation and bruits were absent on auscultation.Laboratory values, including complete blood cell and platelet counts, were normal. The abdominal echography failed to detect any internal vascular lesion.Histopathologic examination revealed a normal epidermis and numerous dilated vascular spaces within the dermis. The thin endothelial cells of the Net LetterHow to cite this article:

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The Genetic Basis and Molecular Diagnosis of Vascular Tumors and Developmental Malformations

Willis

Sander

2016

Vascular Tumors and Developmental Malformations

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Glomuvenous Malformation in a Boy with Transposition of the Great Vessels: A Case Report and Review of Literature

Cited by 8 publications

References 34 publications

Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> Mutation

Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> Mutation

Multiple congenital vascular lesions in a child

The Genetic Basis and Molecular Diagnosis of Vascular Tumors and Developmental Malformations

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