Multiple Glomus Tumor of the Pseudocavernous Hemangioma Type

Gorlin, Robert J.

doi:10.1001/archderm.1960.01580050118018

Cited by 54 publications

(16 citation statements)

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“…Similar cells are present in paragangliomas and solitary glomus tumours, but the pathogenic molecular pathways are distinct (91)(92)(93)(94)(95)(96). GVM segregate as an autosomal-dominant disease, with incomplete penetrance and variable expressivity (76,88,(97)(98)(99). We identified a linked locus, VMGLOM, on 1p21-22 (100,101) and identified, by positional cloning, 16 different mutations in a novel gene that we named glomulin (102).…”

Section: Glomuvenous Malformationsmentioning

confidence: 99%

Vascular malformations: localized defects in vascular morphogenesis

2003

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Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells.

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Section: Glomuvenous Malformationsmentioning

confidence: 99%

Vascular malformations: localized defects in vascular morphogenesis

2003

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“…1 B-E) [Gorlin et al, 1960;Goodman and Abele, 1971]. Similar cells are present in solitary glomus tumors.…”

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confidence: 71%

Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> 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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“…Conviene destacar el artículo de Gorlin et al 5 , que reconoce el carácter familiar de la variante múlti-ple y expone las diferencias histopatológicas entre ambas variantes.…”

Section: Discussionunclassified

“…Histopatológicamente, la variante múlti-ple de TG se caracteriza por la presencia de grandes luces vasculares, vacías o llenas de hematíes, por lo que se ha confundido con hemangiomas y ha originado la nomenclatura de glomangioma 5 (GM), término por el que se conoce ampliamente la variante múltiple de TG. La lesión se localiza en la dermis, y raramente en el tejido subcutáneo 15 .…”

Section: Discussionunclassified

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Tumor glómico subungueal en primer dedo del pie. Caso clínico

Becerrica

Celadilla²,

Orte

et al. 2017

Rev. Int. Cienc. Podol.

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Resumen. Se describe el caso clínico de una paciente de 65 años de edad, atendido en nuestra consulta, por presentar dolor subungueal en primer dedo, con elevación y deformidad de la uña, lo cual dificultaba el uso del calzado. Se realizó cirugía del borde lateral ungueal de la uña y del tercio de la falange distal de primer dedo. Los resultados de los exámenes complementarios efectuados y la evaluación histológica informaron que se trataba de un tumor glómico sin evidencias de malignidad. A los 30 días habían desaparecido completamente las molestias, de manera que se incorporó a sus actividades laborales habituales. Palabras clave: tumor glómico; glomangioma; anatomía patológica.[en] Subungueal glomic tumor at hallux: case report Abstract. The case report of a 65 year-old patient is described, who was attended in our clinic for subungueal pain on the first finger with nail elevation and deformity, which prevented her from wearing shoes. Surgery was performed on the lateral border of the nail and the third of the distal phalange of the first finger. The results of complementary tests and histological evaluation revealed a glomus tumor with no evidence of malignancy. At 30 days discomfort had completely disappeared, so that he returned to his usual working activities. Key words: glomus tumor; glomangioma; pathological anatomy. El tumor glómico (TG) en su variante solitaria 1 es una neoplasia infrecuente que se distribuye habitualmente en las zonas acras, sobre todo subungueales. Es un tumor relativamente raro (el 1 % de los tumores de partes blandas) 2 . Clínicamente se trata de nódulos violáceos, difíciles de apreciar si se localizan por debajo de la lámina ungueal.En la mitad de los casos, aproximadamente, producen depresiones (constatables radiológi-camente) en la falange situada debajo del tumor 2 .

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Multiple Glomus Tumor of the Pseudocavernous Hemangioma Type

Cited by 54 publications

References 1 publication

Vascular malformations: localized defects in vascular morphogenesis

Vascular malformations: localized defects in vascular morphogenesis

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

Tumor glómico subungueal en primer dedo del pie. Caso clínico

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