Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos

Sengupta, Mainak; Sarkar, Devroop; Mondal, Maitreyee; Samanta, Samiran; Sil, Asim Kumar; Ray, Kunal

doi:10.1007/s12041-013-0250-2

Cited by 12 publications

(16 citation statements)

References 17 publications

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“…The melanin present in OCA is mainly pheomelanin, while the production of eumelanin is minimal [ 29 ]. Eumelanin has an important photoprotective role, but although pheomelanin does afford some sunlight photoprotection, during its biosynthesis, reactive oxygen species (ROS) which are carcinogenic are generated.…”

Section: Melanin and Sccsmentioning

confidence: 99%

Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

Lekalakala

Khammissa

Kramer

et al. 2015

Journal of Skin Cancer

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Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressive course and is likely to recur after treatment, very probably because the aetiology and predisposing factors have not changed. Prevention or reduction of occurrence of squamous cell carcinoma of the skin in Black albinos might be achieved through educating the population to increase awareness of the harmful effects of exposure to sunlight and at the same time making available effective screening programs for early detection of premalignant and malignant skin lesions in schools and communities and for early treatment.

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Section: Melanin and Sccsmentioning

confidence: 99%

Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

Lekalakala

Khammissa

Kramer

et al. 2015

Journal of Skin Cancer

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“…Melanin, the pigment responsible for skin colour, is photo-protective against carcinogenic solar ultraviolet radiation [1]. Its deficiency in people with albinism (PWA) makes them at-risk to the harmful effects of radiation, namely photophobia, impaired visual acuity and skin cancers.…”

Section: Introductionmentioning

confidence: 99%

Skin Cancers in People with Albinism in Togo in 2019: Results of Two Rounds of National Mobile Skin Care Clinics

Saka

Akakpo

Teclessou

et al. 2020

Preprint

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Objective: The aim of this study was to determine the prevalence and histological types of skin cancers in people with albinism (PWA) in Togo in 2019.Methods: This is a cross-sectional study of medical records of PWA systematically examined during two mobile skin care clinics in 2019, as part of a programme for the prevention and management of skin cancers in these subjects. Results: During the study period, 280 (95.2%) of the 294 PWA consulted, had developed skin lesions. Of the 280 patients, the pathological reports from the medical records of 33 patients (11.8%) had concluded to keratinocytes skin cancers. The mean age of these 33 patients was 38.6±15.2 years and the sex-ratio was 1. Their occupations were mainly resellers (21.2%), traders (15.2%) and farmers (12.2%). In the 33 patients, 54 cases of keratinocytes skin cancers were identified, with some patients having more than one case or histological type. These 54 keratinocytes skin cancers were divided into 21 cases of invasive squamous cell carcinomas, 2 cases of Bowen’s disease and 31 cases of basal cell carcinomas. These keratinocytes skin cancers mainly occurred in the cephalic region (33 cases; 61.1%), the upper limbs (15 cases; 27, 8%) and the trunk (4 cases; 7.4%).Conclusion: The results of this study show a high prevalence of skin cancers among PWAs in Togo in 2019, only keratinocytes skin cancers. In addition, they illustrate the role of ultraviolet rays with regard to the localization of skin cancers and the occupations of patients. Popularization and compliance with photo protection measures, systematic and regular examination of the skin of these PWAs will allow early detection and treatment of these skin cancers.

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“…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). Frequent skin evaluations should be performed, in addition to education for patients regarding sun protection.…”

Section: Discussionmentioning

confidence: 99%

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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Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos

Cited by 12 publications

References 17 publications

Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

Skin Cancers in People with Albinism in Togo in 2019: Results of Two Rounds of National Mobile Skin Care Clinics

Dermatological disorders in Tuvalu between 2009 and 2012

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