Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait

Blei, Francine; Walter, Jeffrey W.; Orlow, Seth J.; Marchuk, Douglas A.

doi:10.1001/archderm.134.6.718

Cited by 180 publications

(87 citation statements)

References 46 publications

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“…Cheung and colleagues (10) compared the concordance of hemangioma in monozygotic versus dizygotic twins and found no evidence of a strong predisposing inherited component. However, Blei and colleagues described six rare families segregating hemangiomas and/or vascular malformations as an autosomal dominant trait with incomplete penetrance (11). This suggested a predisposing mutation in these families segregating the trait.…”

mentioning

confidence: 99%

Pathogenesis of hemangioma

Marchuk

2001

J. Clin. Invest.

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mentioning

confidence: 99%

Pathogenesis of hemangioma

Marchuk

2001

J. Clin. Invest.

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“…Most cases are sporadic; however, they are occasionally inherited in autosomal dominant fashion with moderate to high rates of penetrance (25). Hemangioma has not been reported as being associated with either MEN1 or CNC to the best of our knowledge.…”

Section: Supplemental Criteriamentioning

confidence: 90%

Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes

Nunes

Chang

Mazeto³

et al. 2008

Arq Bras Endocrinol Metab

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Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance. Diagnosis of CNC occurs when two major criteria (lentiginoses, primary pigmented nodular adrenocortical disease, cardiac and cutaneous myxomas, acromegaly, testicular neoplasias, thyroid cancer) are observed and/or a major criterion associated with a supplementary criterion (affected relative, PRKAR1A gene mutation) occurs. On the other hand, diagnosis for MEN1 occurs through detection of two or more tumors located at the pituitary gland, parathyroid and/or pancreatic cells. The present case describes a 55 year-old male patient, diagnosed with acromegaly, primary hyperparathyroidism and papillary thyroid cancer, exhibiting components that meet the diagnostic criteria of both conditions described. Despite the occurrence of only one sporadic association or the acromegaly per se being responsible for the papillary cancer, new molecular mechanisms may not be ruled out. Complexo de Carney (CNC) e neoplasia endócrina múltipla tipo 1 (MEN1) são formas de neoplasias endócrinas múltiplas de herança autossômica dominante. O diagnóstico do CNC ocorre quando dois critérios maiores (lentiginose, doença nodular pigmentosa primária das adrenais, mixomas cardíacos e cutâneos, acromegalia, neoplasia testicular, carcinoma de tireóide) são observados e/ou um critério maior associado a um critério suplementar (familiar afetado, mutação do gene PRKAR1A) ocorre. Por outro lado, o diagnóstico de MEN1 dá-se pela detecção de dois ou mais tumores localizados na glândula hipofi sária, paratireóide e/ou células pancreáticas. O presente caso descreve um homem de 55 anos, com diagnóstico de acromegalia, hiperparatireoidismo primário e carcinoma papilífero de tireóide, exibindo critérios diagnósti-cos para as duas condições descritas. Embora possa ter ocorrido apenas uma associação esporádica, ou a acromegalia per se tenha predisposto ao carcinoma papilífero, novos mecanismos moleculares podem estar envolvidos.

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“…Whole-genome linkage studies in these families mapped a locus on chromosome 5q31-33, but the responsible gene has not yet be identified. 53,54 Loss of heterozygosity on chromosome 5q has been found in 50% of sporadic hemangiomas, suggesting that a somatic mutation in this region may be associated with sporadic and familial hemangiomas. 55 Cultured endothelial cells isolated from hemangiomas display a nonrandom pattern of X-chromosome inactivation, which was not observed in nonendothelial stromal cells isolated from the same lesions.…”

Section: The Proliferative Phasementioning

confidence: 99%

Hereditary Vascular Anomalies

Tille

Pepper

2004

ATVB

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Abstract-Increased understanding of the mechanisms of angiogenesis and lymphangiogenesis has provided a glimpse at some of the molecules involved in the pathophysiology of hemangiomas and vascular malformations. This review focuses on recent advances in our understanding of the mechanisms of angiogenesis/lymphangiogenesis and the differentiation of arterial, venous, and lymphatic vessels. We integrate this knowledge with new data obtained from genetic studies in humans, which have revealed a number of heretofore-unsuspected candidates involved in the development of familial vascular anomalies. We present a common infantile vascular tumor, hemangioma, and then focus on hereditary familial vascular and lymphatic malformations. We also summarize transgenic mouse models for some of these malformations. It seems reasonable to believe that novel therapeutic strategies will soon emerge for the treatment of hemangiomas and vascular malformations.

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Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait

Cited by 180 publications

References 46 publications

Pathogenesis of hemangioma

Pathogenesis of hemangioma

Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes

Hereditary Vascular Anomalies

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