Oculocutaneous albinism and skin cancer risk

Vijlder, H. C. de; Vijlder, J. J. M. De; Neumann, H. A. M.

doi:10.1111/j.1468-3083.2012.04633.x

Cited by 24 publications

(34 citation statements)

References 10 publications

(24 reference statements)

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“…Unlike eumelanin, pheomelanin assembles into small circular melanosomes, which offer minimal UV filtration. In addition, pheomelanin enhances carcinogenesis by producing DNA‐damaging free radicals [reactive oxygen species (ROS)] when exposed to UV radiation . Therefore, the risk of skin cancer is understandably increased in white individuals.…”

Section: Discussionmentioning

confidence: 99%

The incidence and survival of melanoma and nonmelanoma skin cancer in patients with vitiligo: a nationwide population‐based matched cohort study in Korea

Kim

Hong

et al. 2019

Br J Dermatol

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Summary Background While studies report a lower incidence of skin cancer in white patients with vitiligo compared with controls, the skin cancer incidence in Asian patients with vitiligo is unknown. Objectives To quantify the incidence of melanoma and nonmelanoma skin cancer (NMSC) in Korean patients with vitiligo and compare it with matched nonvitiligo controls. Methods A retrospective matched cohort study was performed with 131 245 incident vitiligo cases and 2 624 900 age‐ and sex‐matched (1 : 20) controls at index date, who were selected from the Korean National Health Insurance database between January 2005 and December 2017. Stratified Cox proportional hazards regression (stratified by sex, birth year and index year) was used to calculate the hazard ratio (HR) of skin cancer in patients with vitiligo. Results Patients with vitiligo were followed up for a mean duration of 6·34 years compared with a follow‐up period of 6·27 years for matched controls. Ultraviolet (UV) treatment‐adjusted HR for melanoma in patients with vitiligo was 3·32 [95% confidence interval (CI) 2·29–4·81] and 1·29 (95% CI 1·06–1·56) for NMSC. The HRs for melanoma and NMSC in the vitiligo population without a history of UV treatment were 3·37 (95% CI 2·32–4·90) and 1·35 (95% CI 1·11–1·64), respectively. Conclusions In contrast to white patients with vitiligo, the risk of skin cancer was increased in the Korean vitiligo population. However, it is noteworthy that the skin cancer incidence in Korean patients with vitiligo was lower than that of their white counterparts. Owing to possible ethnic differences in the susceptibility to skin cancer, skin cancer surveillance in the vitiligo population may be adjusted for race. What's already known about this topic? Prior studies have reported a lower incidence of melanoma and nonmelanoma skin cancer (NMSC) in white patients with vitiligo compared with nonvitiligo controls. The skin cancer incidence in Asian patients with vitiligo is unknown. What does this study add? In contrast to white patients, the risk of both melanoma and NMSC was increased in Korean patients with vitiligo compared with controls. Owing to possible ethnic differences in susceptibility to skin cancer, skin cancer surveillance in the vitiligo population should be adjusted for race.

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Section: Discussionmentioning

confidence: 99%

The incidence and survival of melanoma and nonmelanoma skin cancer in patients with vitiligo: a nationwide population‐based matched cohort study in Korea

Kim

Hong

et al. 2019

Br J Dermatol

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“…Similar issues have been described in Africa (12). This is particularly problematic for individuals with albinism living in tropical countries with intense UV exposure, and these individuals are negatively impacted emotionally and physically from dermatological malignancies (13)(14)(15). Variants of the MC1R gene in patients with oculocutaneous albinism increased susceptibility to skin cancer (14).…”

Section: Discussionmentioning

confidence: 96%

Dermatological disorders in Tuvalu between 2009 and 2012

Lan

Lien

Wang

et al. 2015

Molecular Medicine Reports

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Abstract. There is a distinct lack of knowledge on the prevalence of skin disorders in Tuvalu. The aim of the current study was to assess the prevalence of cutaneous diseases and to evaluate access dermatological care in Tuvalu. Cutaneous disorders in the people of Tuvalu between 2009 and 2012 were examined. The most common skin conditions were eczema/dermatitis, superficial fungal infections, impetigo, carbuncles, furuncles, folliculitis, acne, scabies, warts and keloids. Infrequent skin conditions included infectious granulomatous disease, albinism, actinic keratosis, skin cancer, cutaneous lupus erythematosus and mammary Paget's disease, which required medical attention. This is the first epidemiological report on skin disorders in the southwest Pacific Island, Tuvalu.

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“…Therefore reduction in eumelanin responsible for photoprotection and elevation of pheomelanin-derived ROS are culprits for malignancies in albinos. 4 Albinos acquire SCC of skin de novo or from transformation of premalignant lesions like actinic keratosis which is due to damage of basal cell keratinocytes due to intense and prolong sun exposure. Genomic instability due to mutation in p53 Tumor suppressor gene predisposes the initially transformed keratinocytes to additional genetic alterations leading to clonal expansion of keratinocytes which subsequently lead to SCC of skin.…”

Section: Discussionmentioning

confidence: 99%

“…Ocular change can manifest in reduced visual acuity and nystagmus. 4 Squamous cell carcinoma (SCC) of sun-exposed skin is the most frequently observed malignancy among Albinos. It is ultimately due to lack of protective effect of Eumelanin which guards against both the sunlight as well as oxidative stress-induced DNA damage.…”

Section: Introductionmentioning

confidence: 99%

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

2018

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Pigmentation of skin is a feature which is governed by multiple factors including the number of melanocytes, their metabolic activity of the melanocytes, the melanogenic activity of the melanosomes and lastly the morphology and differentiation of the melanosomes “Squamous cell carcinoma” (SCC) of sun-exposed skin is the most frequently observed malignancy among Albinos. It is ultimately due to lack of Eumelanin which guards against both the sunlight as well as oxidative stress-induced DNA damage. A 41 year old albino male patient presented with multiple asymptomatic raised skin lesions of different morphology and dimensions over scalp, neck, behind right ear and back with duration of 7 years. The initial lesion developed as a small papule over scalp which gradually progressed to present size and later appeared before the right ear, neck and lastly over the back. On examination, the initial lesion over scalp was verrucous plaque with adherent crusting, while other lesions were indurated, non-tender ulcers with irregular margins and punched out edges. There are few whitish raised scaly papules and plaques over the back. Routine investigations were within normal limits. Histopathology findings from the neck revealed squamous epithelium with tumour cells infiltrating the underlying stroma. Tumour cells showed pleomorphism, increased N:C ratio, hyperchromatic nuclei, prominent nucleoli and keratin pearls. Histopathology findings from the scaly lesion over the back revealed mild hyperkeratosis with dysplasia of the basal keratinocytes and prominent solar elastosis in the superficial dermis. Based on clinical and histopathogical findings, diagnosis of multiple SCC with actinic keratosis was made. Patient was referred to oncosurgeon for further management. Early detection and prompt treatment of the disease is required to reduce the spread to other parts of the body along with photo-protection all throughout life.

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Oculocutaneous albinism and skin cancer risk

Cited by 24 publications

References 10 publications

The incidence and survival of melanoma and nonmelanoma skin cancer in patients with vitiligo: a nationwide population‐based matched cohort study in Korea

The incidence and survival of melanoma and nonmelanoma skin cancer in patients with vitiligo: a nationwide population‐based matched cohort study in Korea

Dermatological disorders in Tuvalu between 2009 and 2012

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

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