Novel<i>TMC8</i>splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease

Imahorn, Elias; Yüksel, Zafer; Spoerri, I.; Gürel, Gülhan; Imhof, Céline; Saraçoğlu, Zeynep Nurhan; Aksu, Ayşe Esra Koku; Rády, Peter L.; Tyring, Stephen K.; Kempf, Werner; Itin, Peter; Burger, Bettina

doi:10.1111/jdv.14431

Cited by 27 publications

(32 citation statements)

References 13 publications

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“…5 So far, 501 EV cases have been globally reported. 6 EV cases have been found to be either sporadic or inherited (autosomal recessive, sex linked or autosomal dominant). In fact, in one third of the patients, cancer has been seen to develop in the light exposed areas.…”

Section: Epidemiologymentioning

confidence: 99%

Epidermodysplasia Verruciformis: Functional Role of E6 and E7 Oncoproteins as the Link between Viral Infection to Carcinogenesis

Hazra¹,

Bose²,

Pattanayak³

2020

IJPER

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Background: Cancer is the most dreadful disease since last few decades. Besides all causative reasons, it is observed that one in every five cancers globally is linked with infectious diseases. Among all the infectious oncogenic viruses, 35% of the human cancers have been caused by Human Papilloma Viruses (HPVs). One such type is Epidermodysplasia Verruciformis (EV), a tropical disease also known as the Tree man syndrome. Hypothesis: EV is one of the most potential illustrations linking viral infection with skin carcinogenesis. The HPV virus acts as a cofactor with the UV radiation. The lesions caused by invasion of the HPV in the sun exposed wounded areas of the EV patients clearly links βHPV and cellular proliferation where EVER1 and EVER2 gene mutations are equally cardinal. When the viral infection persists, the somatic mutations over time accumulate, leading to precancerous lesions at first, followed by the malignant transformation. Two out of the eight proteins that the HPV genome codes for namely E6 and E7, account for the high-risk type HPVs that cause cancer. Both work similarly but on different sites. Both E6 and E7 proteins encode the main HPV's oncoprotein which promotes cell progression and viral replication. Results and Conclusion: The role of E6 and/or E7 in tumor progression, metastasis promotion, NOTCH and TGFβ pathway modification, DNA methyltransferase stimulation, histone modification, E-cathedrine modification etc. have been described in this review for the better understanding of the linkage between viral infection and carcinogenesis process.

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Section: Epidemiologymentioning

confidence: 99%

Epidermodysplasia Verruciformis: Functional Role of E6 and E7 Oncoproteins as the Link between Viral Infection to Carcinogenesis

Hazra¹,

Bose²,

Pattanayak³

2020

IJPER

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“…In many patients, isomorphic lesions develop preferentially at sites of traumas (the Koebner phenomenon) ( de Oliveira et al, 2003 ). Some patients have persistent palmar lesions similar to palmar pits and dermatoscopically consistent with plane warts ( Imahorn et al, 2017 ). Over the course of the patient’s lifetime, the phenotype of a particular skin area may change, and lesions may progress to NMSC.…”

Section: Clinical Manifestations and Histopathology Of Evmentioning

confidence: 99%

“…Epidermodysplasia verruciformis (EV) is a rare skin disease characterized by persistent disseminated flat warts and pityriasis versicolor-like lesions, associated with a high risk of non-melanoma skin cancer (NMSC). About 501 patients have been reported worldwide ( Burger and Itin, 2014 ; Imahorn et al, 2017 ). EV was first described in Lewandowsky and Lutz (1922) as a congenital skin disease.…”

Section: Introductionmentioning

confidence: 99%

“…The observation of parental consanguinity and familial cases led to the suggestion that EV might be a genetic disease with autosomal recessive inheritance ( Cockayne, 1933 ; Rajagopalan et al, 1972 ). This notion was not confirmed until 70 years later, when inactivating mutations of the EVER1/TMC6 and EVER2/TMC8 genes accounting for about 50% of all known cases of EV were identified ( Ramoz et al, 2002 ; Orth, 2006 , 2008 ; Imahorn et al, 2017 ). Auto- and heteroinoculation experiments performed from 1946 onward showed that the phenotype of EV was dependent on a viral infection ( Lutz, 1946 ; Jablonska and Milewski, 1957 ).…”

Section: Introductionmentioning

confidence: 99%

“…Viral particles were then detected in EV lesions ( Ruiter and van Mullem, 1966 ; Jablonska et al, 1968 ), and, subsequently, EV-specific human papillomaviruses (HPVs) were identified, some of which, such as HPV-5 in particular, were shown to be associated with the cancers observed in EV patients (reviewed in Orth et al, 1980 ; Orth, 2006 ). EV thus results from a genetically determined susceptibility to specific skin-tropic HPVs ( Orth, 2006 , 2008 ; Imahorn et al, 2017 ). These viruses belong to the beta-genus, and are almost ubiquitous and apparently benign in the general population.…”

Section: Introductionmentioning

confidence: 99%

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Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses

et al. 2018

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Epidermodysplasia verruciformis (EV) is an autosomal recessive skin disorder with a phenotype conditional on human beta-papillomavirus (beta-HPV) infection. Such infections are common and asymptomatic in the general population, but in individuals with EV, they lead to the development of plane wart-like and red or brownish papules or pityriasis versicolor-like skin lesions, from childhood onwards. Most patients develop non-melanoma skin cancer (NMSC), mostly on areas of UV-exposed skin, from the twenties or thirties onwards. At least half of the cases of typical EV are caused by biallelic loss-of-function mutations of TMC6/EVER1 or TMC8/EVER2. The cellular and molecular basis of disease in TMC/EVER-deficient patients is unknown, but a defect of keratinocyte-intrinsic immunity to beta-HPV is suspected. Indeed, these patients are not susceptible to other infectious diseases and have apparently normal leukocyte development. In contrast, patients with an atypical form of EV due to inborn errors of T-cell immunity invariably develop clinical symptoms of EV in the context of other infectious diseases. The features of the typical and atypical forms of EV thus suggest that the control of beta-HPV infections requires both EVER1/EVER2-dependent keratinocyte-intrinsic immunity and T cell-dependent adaptive immunity.

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Viral Infections

Harwood,

Sterling

2024

Rook's Textbook of Dermatology

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Viruses can cause disease in the skin or mucosa by direct infection or, via a systemic infection, produce secondary skin abnormalities. The chapter reviews the viruses associated with skin lesions, outlining the pathophysiology, the clinical features, diagnostic methods and the approaches to treatment. Primary skin infection following direct contact occurs with poxviruses, some herpesviruses and papillomaviruses leading to visible features which may be readily diagnostic. Less specific skin changes are seen with systemic infections, when infection is often via mucosae or inoculation, for example with parvovirus, measles or coronavirus and for these infections, diagnosis will usually involve body fluid analysis.

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NovelTMC8splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease

Cited by 27 publications

References 13 publications

Epidermodysplasia Verruciformis: Functional Role of E6 and E7 Oncoproteins as the Link between Viral Infection to Carcinogenesis

Epidermodysplasia Verruciformis: Functional Role of E6 and E7 Oncoproteins as the Link between Viral Infection to Carcinogenesis

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses

Viral Infections

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