Diagnosis and treatment for skin cancer in albinos: a descriptive study

Graziosi, Guilherme; Sbalchiero, Juliano Carlos; Neto, Brasil Ramos Caiado

doi:10.5935/2177-1235.2014rbcp0011

Cited by 3 publications

(4 citation statements)

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“…This finding goes against previous data showing SCC as the most common subtype of skin cancer in OCA patients 3,5,8,13,16,17 . Only one previous study, also conducted in Brasil and evaluating biopsy results, showed a higher prevalence of BCC compared to SCC, however the difference between the prevalence of the subtypes of skin cancer was of only 3%, with a prevalence of 37% for BCC and of 34% for SCC 10 . In our study, the difference was greater, as the prevalence of BCC was 51% compared with 31% for SCC.…”

Section: Discussionmentioning

confidence: 84%

“…Due to pigmentary alterations, OCA patients may be more prone to increased morbidity and mortality related to the development of premalignant and malignant skin lesions, even at young ages 8 . Despite the global distribution, data on the prevalence and risk factors for malignant lesions in this population are scarce in the literature, especially in the Brazilian population 6,[9][10][11][12] .…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Ramos

Fernandes

2021

Rev. Assoc. Med. Bras.

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OBJECTIVE: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances. Aims:To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer.METHODS: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Our primary outcome was the occurrence of malignant skin lesions in biopsied tissues. RESULTS:Of 74 patients analyzed, 11 (15%) had one or more suspicious lesions and were biopsied, of which 8 (72.7%) patients presented with basal cell carcinomas, 7 (63.3%) presented with squamous cell carcinoma, and 1 (9%) presented with melanoma. Moreover, 32(43%) patients presented with actinic keratosis. Age, female gender, previous history of sunburn, history of malignant lesions and history of sun exposure without photoprotection were associated with the presence of malignant lesions.Limitations: Unicentric, non-aleatory sample.CONCLUSIONS: There was a high prevalence of malignant and pre-malignant lesions in this population. Some potentially modifiable risk factors were associated with the occurrence of malignant skin lesions.

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Section: Discussionmentioning

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Ramos

Fernandes

2021

Rev. Assoc. Med. Bras.

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“…Afirma, ademais, que no ocidente essa relação é inversa. Em outro estudo retrospectivo, apesar de proporção menor, mostrou maior incidência de CBC (11,12). O melanoma é o tipo menos frequente de câncer de pele e costuma ter prognóstico mais grave.…”

Section: Discussionunclassified

Tumores de pele sincrônicos em paciente albino: relato de caso / Synchronous and invasive cutaneous skin cancer in an albino patient: case report

Silva¹,

Mendes²,

Mota³

et al. 2021

Braz. J. Hea. Rev.

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O albinismo é decorrente de uma condição hereditária de caráter autossômico recessivo, caracterizado por uma hipopigmentação geral da pele, acarretando menor proteção contra raios solares, logo estão mais sujeitos a queimaduras solares, elastose, lesões prémalignas como a ceratose actínica e cânceres de pele. O carcinoma escamocelular é o mais comum em albinos, seguido pelo basocelular. A ocorrência de tumores sincrônicos de diferentes subtipos é bastante incomum de acontecer nessa população, por isso, poucos casos são relatados na literatura. O presente relato tem como objetivo abordar um caso de tumores sincrônicos avançados em paciente albino, diagnosticado no ambulatório de oncologia da Santa Casa de Misericórdia de Maceió-AL. A metodologia foi realizada com dados de anamnese e exame físico do paciente, exames complementares e consulta a

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“…Therefore, individuals affected by OCA are more susceptible to skin cancer, which is the main mortality factor associated with albinism (Moreira et al, 2013;Urtatiz et al, 2014;Yasumizu et al, 2015). Squamous cell carcinoma is the most common cancer in OCA (Graziosi et al, 2014). Incorrect melanin biosynthesis affects the visual system.…”

Section: Introductionmentioning

confidence: 99%

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

et al. 2020

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Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5-18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Wholeexome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical followup and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.

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Diagnosis and treatment for skin cancer in albinos: a descriptive study

Cited by 3 publications

References 0 publications

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients

Tumores de pele sincrônicos em paciente albino: relato de caso / Synchronous and invasive cutaneous skin cancer in an albino patient: case report

Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

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