Inheritance Patterns of Infantile Hemangioma

Castrén, Eeva; Salminen, Päivi; Vikkula, Miikka; Pitkäranta, Anne; Klockars, Tuomas

doi:10.1542/peds.2016-1623

Cited by 39 publications

(36 citation statements)

References 32 publications

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“…Different therapeutic modalities have been developed for the treatment of IH. Historically, the treatment of IH consists of corticosteroids, surgical excision and laser therapy [53][54][55]. Due to the associated side effects of long term treatment with corticosteroids in addition to the contraindication of surgery in some children; emergence of new drugs has become the primary concern among physicians [56].…”

Section: Discussionmentioning

confidence: 99%

Safety and Efficacy of Imiquimod in the Treatment of Infantile Hemangioma; a Systematic Review and Meta-Analysis

Alakeel¹

2020

J Current Med Res Opinion

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Objective: To study the safety and efficacy of imiquimod in the treatment of infantile hemangioma (IH). Method: Systematic search was conducted in nine electronic databases for selecting relevant articles reporting the safety and efficacy of imiquimod as a therapeutic agent for treatment of IH. Meta-analysis was used to pool the results. Results: Of total 180 records screened, we included 9 studies for this systematic review and meta-analysis. About one-fifth of the patients (20.9%) have showed clinical resolution with 95% confidence interval (CI) of 11.8% to 34.1%. Regarding IH type, superficial type showed the highest rates of both clinical resolution and excellent response rates with 31.2% (95% CI= 16.6% to 50.8%) and 26.5% (95% CI= 11.6% to 49.6%), respectively. A relatively high prevalence of any side effects with 63.1% (95% CI= 47.6% to 76.3%) has been reported. The highest reported side effect was crustation (44.1%; 95% CI= 27.8% to 61.8%). Conclusion: Imiquimod is effective in the treatment of superficial IH and it is associated with local side effects.

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Section: Discussionmentioning

confidence: 99%

Safety and Efficacy of Imiquimod in the Treatment of Infantile Hemangioma; a Systematic Review and Meta-Analysis

Alakeel¹

2020

J Current Med Res Opinion

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“…Additionally, there is some debate regarding the sporadic or familial etiology of IH. Whereas twin studies suggest extra-genetic factors as the primary cause of disease, recent work studying multiple pedigrees suggests an either autosomal dominant or maternally transmitted inheritance pattern 6, 7 . Genetic analysis of syndromic forms of IH, including PHACE syndrome (posterior fossa malformations, infantile hemangiomas, arterial anomalies, cardiac defects, and eye anomalies syndrome), which appears more often in female offspring, suggests a possible X-linked recessive pattern but has not identified a somatic mutation associated with most cases 8– 10 .…”

Section: Infantile Hemangiomasmentioning

confidence: 99%

Genetic investigation of childhood vascular tumor biology reveals pathways for therapeutic intervention

2019

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Vascular tumors are neoplasms of endothelial cells, a significant number of which present in childhood. Recent studies have examined the mutational landscape of many subtypes of vascular tumors, identifying mutations primarily within the Ras–mitogen-activated protein kinase (MAPK) pathway and providing a unique opportunity to consider targeted therapeutics. This review will summarize the current understanding of childhood vascular tumor pathobiology.

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“…They are present in an estimated 5% of the population and are characterized by abnormal proliferation of endothelial cells and abnormal blood vessel structure 1 . While most IHs are sporadic, some familial clustering does occur 2 . Other risk factors include first trimester bleeding, preeclampsia, prematurity, advanced maternal age, placental abnormalities, female gender, and low birth weight 2 .…”

Section: Introductionmentioning

confidence: 99%

Hemangioma: Recent Advances

DeHart

Richter

2019

F1000Res

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Hemangiomas are common benign vascular tumors that often present in childhood. Diagnosis is based on clinical history, physical examination, and, when unclear, assisted with ultrasound or MRI. While the majority are small, nonproblematic, and can be managed conservatively, some hemangiomas may be associated with underlying syndromes or concerning for visceral involvement. Symptomatic lesions may develop ulceration, bleeding, vision disturbances, functional limitations, or disfigurement. The ideal treatment for a symptomatic hemangioma is often multimodal and may vary depending on the size, location, and proximity to critical structures. Medical treatments include topical beta blockers, oral propranolol, or steroid injections. Surgical resection and laser therapies may be necessary to optimize long term outcomes.

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Inheritance Patterns of Infantile Hemangioma

Abstract: Based on this large number of IH pedigrees, we suggest at least 2 possible mechanisms of inheritance: autosomal dominant and maternal transmission. This study highlights the need for additional genetic studies to define inheritance of this common disease.

Cited by 39 publications

References 32 publications

Safety and Efficacy of Imiquimod in the Treatment of Infantile Hemangioma; a Systematic Review and Meta-Analysis

Safety and Efficacy of Imiquimod in the Treatment of Infantile Hemangioma; a Systematic Review and Meta-Analysis

Genetic investigation of childhood vascular tumor biology reveals pathways for therapeutic intervention

Hemangioma: Recent Advances

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