Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

Kacerovská, Denisa; Kerl, Katrin; Michal, Michal; Filipová, Hana; Vrtěl, Radek; Vaněček, Tomáš; Zelenakova, Hana; Kraus, Jaroslav; Kodet, Roman; Kazakov, Dmitry V.

doi:10.1016/j.jaad.2012.03.021

Cited by 5 publications

(3 citation statements)

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“…The exquisite exposition of microscopic pathology[ 1 11 ] was fascinating and is required to be taken cognizance of as an essential adjunct for confirming the clinical diagnosis. Virtually, it should form a part component of already enlisted major and/or minor features of TSC.…”

Section: Discussionmentioning

confidence: 99%

“…Tuberous sclerosis is a genetic disorder, where cellular differentiation and proliferation result in hamartoma formation in the skin, brain, eye, kidney, and heart. [ 1 2 ] The credit of its initial description, in the year 1862, goes to Von Recklinghausen,[ 3 ] while Désiré-Magloire Bourneville[ 4 ] coined the term sclerose tubereuse ; the current name is its derivative. The clinical triad of epilepsy, low intelligence, and adenoma sebaceum, the epiloia , was invented by Sherlock.…”

Section: Introductionmentioning

confidence: 99%

“…The clinical triad of epilepsy, low intelligence, and adenoma sebaceum, the epiloia , was invented by Sherlock. [ 5 ] The term tuberous sclerosis complex (TSC)[ 1 ] is now widely acclaimed, emphasizing the variegated nature of its attribute.…”

Section: Introductionmentioning

confidence: 99%

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Tuberous sclerosis complex: Diagnostic role of magnetic resonance imaging

Sehgal¹,

Singh

Sharma

et al. 2015

Indian J Dermatol

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Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. The role of magnetic resonance imaging of the brain, in particular, is highlighted to define the large variety of neurological abrasions for determining its future progression.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Tuberous sclerosis complex: Diagnostic role of magnetic resonance imaging

Sehgal¹,

Singh

Sharma

et al. 2015

Indian J Dermatol

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Localised lymphoedema forming a papillated lesion on the scalp

et al. 2018

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Prioritization of genes involved in endothelial cell apoptosis by their implication in lymphedema using an analysis of associative gene networks with ANDSystem

et al. 2019

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BackgroundCurrently, more than 150 million people worldwide suffer from lymphedema. It is a chronic progressive disease characterized by high-protein edema of various parts of the body due to defects in lymphatic drainage. Molecular-genetic mechanisms of the disease are still poorly understood. Beginning of a clinical manifestation of primary lymphedema in middle age and the development of secondary lymphedema after treatment of breast cancer can be genetically determined. Disruption of endothelial cell apoptosis can be considered as one of the factors contributing to the development of lymphedema. However, a study of the relationship between genes associated with lymphedema and genes involved in endothelial apoptosis, in the associative gene network was not previously conducted.MethodsIn the current work, we used well-known methods (ToppGene and Endeavour), as well as methods previously developed by us, to prioritize genes involved in endothelial apoptosis and to find potential participants of molecular-genetic mechanisms of lymphedema among them. Original methods of prioritization took into account the overrepresented Gene Ontology biological processes, the centrality of vertices in the associative gene network, describing the interactions of endothelial apoptosis genes with genes associated with lymphedema, and the association of the analyzed genes with diseases that are comorbid to lymphedema.ResultsAn assessment of the quality of prioritization was performed using criteria, which involved an analysis of the enrichment of the top-most priority genes by genes, which are known to have simultaneous interactions with lymphedema and endothelial cell apoptosis, as well as by genes differentially expressed in murine model of lymphedema. In particular, among genes involved in endothelial apoptosis, KDR, TNF, TEK, BMPR2, SERPINE1, IL10, CD40LG, CCL2, FASLG and ABL1 had the highest priority. The identified priority genes can be considered as candidates for genotyping in the studies involving the search for associations with lymphedema.ConclusionsAnalysis of interactions of these genes in the associative gene network of lymphedema can improve understanding of mechanisms of interaction between endothelial apoptosis and lymphangiogenesis, and shed light on the role of disturbance of these processes in the development of edema, chronic inflammation and connective tissue transformation during the progression of the disease.Electronic supplementary materialThe online version of this article (10.1186/s12920-019-0492-9) contains supplementary material, which is available to authorized users.

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Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

Cited by 5 publications

References 45 publications

Tuberous sclerosis complex: Diagnostic role of magnetic resonance imaging

Tuberous sclerosis complex: Diagnostic role of magnetic resonance imaging

Localised lymphoedema forming a papillated lesion on the scalp

Prioritization of genes involved in endothelial cell apoptosis by their implication in lymphedema using an analysis of associative gene networks with ANDSystem

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