Kindler syndrome complicated by invasive squamous cell carcinoma of the palate

Souldi, H.; Bajja, M.Y.; Mahtar, M.

doi:10.1016/j.anorl.2017.05.003

Cited by 9 publications

(13 citation statements)

References 8 publications

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“…1Calculated cumulative risk of the first squamous cell carcinoma in Kindler syndrome patients. For comparative purposes, we have also plotted the calculated cumulative risk described for RDEB, JEB and the general population which were taken from the literature [26], [27]…”

Section: Resultsmentioning

confidence: 99%

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Guerrero-Aspizua

Conti

Escámez

et al. 2019

Orphanet J Rare Dis

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Background Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of squamous cell carcinoma (SCC) in these patients. SCC developed in 13 of the 91 patients. Results The youngest case arose in a 29-year-old patient; however, the cumulative risk of SCC increased to 66.7% in patients over 60 years of age. The highly aggressive nature of SCCs in KS was confirmed showing that 53.8% of the patients bearing SCCs develop metastatic disease. Our data also showed there are no specific mutations that correlate directly with the development of SCC; however, the mutational distribution along the gene appears to be different in patients bearing SCC from SCC-free patients. The body distribution of the tumor appearance was also unique and different from other bullous diseases, being concentrated in the hands and around the oral cavity, which are areas of high inflammation in this disease. Conclusions This study characterizes SCCs in the largest series of KS patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT-1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in KS patients.

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Section: Resultsmentioning

confidence: 99%

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Guerrero-Aspizua

Conti

Escámez

et al. 2019

Orphanet J Rare Dis

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“…Several case reports and a case series indicate that KS patients in adulthood have an increased susceptibility to SCC development [147,148,149]. Recently, Guerrero-Aspizua and coll.…”

Section: Kindler Syndromementioning

confidence: 99%

Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives

Condorelli

Dellambra

Logli

et al. 2019

IJMS

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Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders determined by mutations in genes encoding for structural components of the cutaneous basement membrane zone. Disease hallmarks are skin fragility and unremitting blistering. The most disabling EB (sub)types show defective wound healing, fibrosis and inflammation at lesional skin. These features expose patients to serious disease complications, including the development of cutaneous squamous cell carcinomas (SCCs). Almost all subjects affected with the severe recessive dystrophic EB (RDEB) subtype suffer from early and extremely aggressive SCCs (RDEB-SCC), which represent the first cause of death in these patients. The genetic determinants of RDEB-SCC do not exhaustively explain its unique behavior as compared to low-risk, ultraviolet-induced SCCs in the general population. On the other hand, a growing body of evidence points to the key role of tumor microenvironment in initiation, progression and spreading of RDEB-SCC, as well as of other, less-investigated, EB-related SCCs (EB-SCCs). Here, we discuss the recent advances in understanding the complex series of molecular events (i.e., fibrotic, inflammatory, and immune processes) contributing to SCC development in EB patients, cross-compare tumor features in the different EB subtypes and report the most promising therapeutic approaches to counteract or delay EB-SCCs.

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“…Acomete, geralmente, homens e mulheres na faixa dos 60 anos, em uma proporção de 3:1, entretanto, há estudos que sugerem razão de 7,4:1 (Drain et al, 2015). Clinicamente, a presença de metástase para as cadeias linfonodais cervicais pode ser constatada na primeira consulta em até 54% dos casos relatados e metástases a distância em 10% (Souldi et al, 2018).…”

Section: Resultsunclassified

Carcinoma epidermoide de palato mole: uma revisão narrativa com ênfase nos critérios diagnósticos

Santos

Rocha

Lima

et al. 2020

RSD

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O trabalho tem como objetivo discutir acerca do carcinoma epidermoide de palato mole, suas principais características clínicas, histológicas e prevalência, critérios fundamentais para auxiliar no diagnóstico e tratamento dessa patologia. O carcinoma epidermoide é o tumor maligno mais comumente encontrado na cavidade oral, acomete principalmente a borda posterior da língua, tendo predileção por indivíduos tabagistas e/ou etilistas crônicos devido maior probabilidade de desenvolver o câncer bucal associado ao fator irritativo crônico. Sua manifestação ocorre em diferentes graus de malignidade tendo como características predominantes anaplasia, destruição do tecido local, crescimento rápido e capacidade de metástase. O diagnóstico do carcinoma epidermoide geralmente é tardio, seja pelo desconhecimento da patologia pelo profissional ou mesmo percepção das alterações na mucosa pelo próprio paciente que evitam buscar atendimento por temer o diagnóstico. Trata-se de uma revisão narrativa, de natureza qualitativa e exploratória, a qual objetiva elencar e evidenciar os critérios diagnósticos para o carcinoma epidermoide de palato mole, pautados em critérios clínicos, histológicos, tratamento e sua etiologia. Foi realizada uma busca ativa nas seguintes bases de dados eletrônicas: PUBMED, Medline, Google Scholar, Diadorim, Portal Periódicos CAPES, utilizando-se de descritores, Descriptors in Health Science (DeCS) e Medical Subject Headings (MeSH). Com o estudo, conclui-se que o conhecimento sobre lesões tumorais é de suma importância por parte dos profissionais da saúde, auxiliando assim em um diagnóstico precoce, tornando-se menos negativo e elevando as taxas de sobrevida do paciente.

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Kindler syndrome complicated by invasive squamous cell carcinoma of the palate

Cited by 9 publications

References 8 publications

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Epidermolysis Bullosa-Associated Squamous Cell Carcinoma: From Pathogenesis to Therapeutic Perspectives

Carcinoma epidermoide de palato mole: uma revisão narrativa com ênfase nos critérios diagnósticos

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