Malignant Skin Tumors in Patients with Oculocutaneous Albinism

Nishigori, Makiko Yasumizu Chikako; Takata, Masakazu Kawaguchi Tomoya; Suzuki, Naoki Oiso Tamio

doi:10.4172/2376-0427.1000218

Cited by 2 publications

(2 citation statements)

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“…The lack of melanin among people with albinism causes an increased susceptibility to skin cancer, which is the mainly mortality factor for albinism. Thus, sunscreen is particularly important for skin cancer prevention in this group (Kromberg et al, 1989;Moreira et al, 2013;Kiprono et al, 2014;Yasumizu et al, 2015). We did not find any precancerous lesions in the study cohort.…”

Section: Discussionmentioning

confidence: 45%

“…Melanin has a role in skin photoprotection against injury caused by ultraviolet radiation. 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).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 45%