Cross-sectional study on clinical profile and quality of life of individuals with occulocutaneous albinism in Lagos, Nigeria : Pigment International

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Cross-sectional study on clinical profile and quality of life of individuals with occulocutaneous albinism in Lagos, Nigeria

Ayanlowo, Olusola O.1,2; Akinkugbe, Ayesha O.1,2; Onakoya, Adeola2,3; Otrofanowei, Erere1,2,; Odiase, Ogogho A.2; Olumide, Yetunde M.1

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Pigment International 10(1):p 37-45, Jan–Apr 2023. | DOI: 10.4103/pigmentinternational.pigmentinternational_
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Albinism is a genetic disorder of pigmentation with variable phenotypic presentations. Albinism occurs all over the world, with highest prevalence in sub-Saharan Africa. The most common type is oculocutaneous albinism (OCA), an autosomal recessive disorder. Albinism is associated with morbidity and mortality in Africans. This study aims to describe the epidemiology of OCA, clinical expressions, and effect on the quality of life (QoL).


Individuals with albinism were invited through the albino foundations and dermatology clinic of Lagos University Teaching Hospital. Structured questionnaires were used to document demographic and clinical data: occupational history, sun exposure, sun protective behavior, knowledge of adverse effects of sun exposure, and QoL and features of photodamage.


A total of 142 Nigerians with albinism were recruited. The male to female ratio was 1:1.25. The median age was 22.5 and interquartile range 10.25 to 34. Knowledge of need for sun protection was found in 129 (90.8%): 81 (57%) had daily sun exposure and 61 (43%) had work exposure to sun. Use of sun protection was noted in 103 (72.5%). Overall, photodamage was found in 136 subjects (95.8%). Mean effect of albinism and photodamage on QoL was 6.34 ± 4.47 (standard deviation) corresponding to moderate effect on QoL and domain of “symptoms and feelings” was most affected.


The prevalence of photodamage among people with albinism is high despite knowledge of sun protection. There is need for efforts on photoprotection by individuals with albinism and public health interventions.


Albinism is a genetic disorder of pigmentation with variable genetic abnormalities and phenotypic presentations. Albinism occurs all over the world, with estimated prevalence between 1:1000 and 1:15,000 individuals highest in sub-Saharan Africa and it occurs in clusters in some communities.[1]

The clinical features result from absence or reduction in tyrosinase enzyme, the precursor of melanin causing an absence or reduction in melanin content rendering the skin melano-compromised.[2] Albinism is a genetic disease of immense health and social consequences in Africans. Although albinism is associated with normal lifespan, development, intelligence, educational achievement, and fertility, there is associated severe morbidity and mortality in African albinos.[1,2,3] The most common type is oculocutaneous albinism (OCA), which is an autosomal recessive disorder caused by a group of genetically heterogenous inherited defects that result in loss of pigmentation in the eyes, skin, and hair.[4] There is a need to update current knowledge of albinism in Nigeria to bring to fore the magnitude of problems and health requirements of people with albinism. This provides healthcare providers with evidence-based information for public health interventions, and for policy makers to make decisions on health planning for individuals with albinism.

The aim of the study was to describe the epidemiology of OCA, its clinical expressions, and effect on the quality of life (QoL) of Nigerians.


This was a cross-sectional study of albinism in Lagos, Nigeria carried out from February 2017 to July 2018. Lagos State is the economic hub, the most populous and largest urban area in Nigeria with an estimated population of 24 million.[5] Lagos is in the South-West of Nigeria, initially predominantly of Yoruba ethnic group, but has grown to become multiethnic in view of its fast-growing urbanization. Lagos hosts two teaching hospitals (Lagos University Teaching Hospital − LUTH and Lagos State University Teaching Hospital − LASUTH) which have large dermatology clinics. Ethical approval was obtained from the Health Research Ethics Committee of LUTH (ADM/DCST/HREC/1622). Informed written consent was obtained from all adult subjects and assent from the parents of minors.

All individuals with OCA seeking medical care at the dermatology and ophthalmology clinics of the Lagos University Teaching Hospital were invited to participate in the study. Participants were also recruited by invitation through the albino foundations in Nigeria: The Albino Foundation (TAF), The Albino Network Association of Nigeria (TANA), and Onome Akinlolu Majaro foundation (OAM). Participants were contacted through the organizations’ social platforms (WhatsApp and Facebook); and at activities marking the World Albinism Day in 2016 and 2017. OCA was described as whitening of the skin and hair, in addition to diagnostic eye findings such as nystagmus, poor visual acuity, strabismus, iris trans-illumination, and absence foveal pit or poor fovea development.

All adults with OCA who volunteered and consented were recruited to participate in the study. Participants less than 16 years were interviewed, and data were collected with the parents’ or guardian’s assent.

An interviewer-administered questionnaire which captured baseline demographic data and relevant clinical information such as family history of albinism (Pedigree), occupational history, sun exposure pattern, sun protective behavior, and knowledge of adverse effects of sun exposure. Dermatology life quality index (DLQI) was used to assess the QoL in individuals with albinism aged 16 years and above. Individuals with incompletely filled questionnaires were excluded in the analysis. The child DLQI was used to assess for the children, but the data were not analyzed because of recorded inconsistencies.

The DLQI is an internationally validated questionnaire used extensively in various clinical studies globally. The DLQI questionnaire consists of 10 questions with four possible answers: “very much,” “a lot,” “a little,” and “not at all” which are respectively awarded 3, 2, 1, and 0 marks. The questions are divided into six domains representing major areas of life in which the QoL is assessed. These are symptoms and feelings, daily activities, leisure, work, and school; personal relationships; and treatment. A total score of 30 can be obtained. A total score of 0 to 1 is indicative of “no effect on QoL”; 2 to 5 means “small effect”; 6 to 10 means “moderate effect”; 11 to 20 means “‘very large effect”; and 21 to 30 is for “extremely large effect.”[6,7,8]

All participants were clinically examined to document the clinical features of OCA and photodamage. Features of acute (erythema, edema, pain, and burning) and chronic photodamage (such as fine and deep wrinkling, solar lentigines) as well as skin cancers were documented.

Data were entered anonymously on Microsoft Excel and categorized based on age groups into children/early adolescents (<18 years), adults (18–44 years), and middle age and elderly (>44 years). Data analysis was performed using IBM SPSS, Version 21 (IBM, New York, NY, USA).

For the descriptive statistics, mean ± standard deviation and median (interquartile range) were used to express demographic characteristics as appropriate. Features of photodamage (acute versus chronic) were compared with extent of sun damage and Chi-square was used to determine the level of significance at P < 0.05. Friedman test was used to determine the differences in the domains of the DLQI scores. The ranked mean values were documented, and P-values <0.05 were considered statistically significant. Posthoc test carried out was Wilcoxon sign rank test to determine the parameters with significant differences.


A total of 142 Nigerians with albinism were recruited and interviewed. One hundred and twenty-nine of the participants lived in Lagos, whereas others were from neighboring Ogun state. The mean age ± standard deviation for the study participants was 23 ± 15.1 years. Table 1 summarizes the demographic characteristics and the age range was 1 to 61 years. The male to female ratio was 1:1.25. Family history of albinism was documented in 109 (76.8%) participants. Table 2 summarizes more participants significantly reported reduction in whiteness of the skin at the time of collection of data compared to the time of birth (P = 0.00027). Twenty-six participants (18.3%) observed tanning/yellowing of their skin. More participants noted browning and tanning (golden/yellow) of their hair at data collection than at birth, though this was not statistically significant.

Table 1:
Characteristics of participants
Table 2:
Skin and hair color of study participants

One hundred and twenty-nine participants (90.8%) acknowledged that they knew about various types of sun protection. Use of some form of sun protection was noted in 103 (72.5%). Despite the knowledge of need for sun protection in 129 (90.8%) subjects, 81 (57%) participants had daily sun exposure between 8 am and 4 pm; and 61 (43%) had work-related sun exposure. Table 3 summarizes details about sources of knowledge about sun protection, methods/materials used for sun protection, and pattern of sun exposure in this cohort of individuals with albinism. There was no significant association between sun exposure from work and overall photodamage (P = 0.61)

Table 3:
Sun protection and sun exposure among study participants

Features of both acute and chronic photodamage were observed in 136 (95.8%) across all age groups [Table 4]. Figure 1 shows the most affected parts of the body such as face, neck, upper chest, upper back, and scalp in descending order. Features of acute photodamage such as erythema (redness), edema (swelling), pain, and burning of the skin were found in 80 (56.3%) individuals and chronic photodamage in 134 (94.4%) individuals. Features of photoaging [Figure 2a]–d include solar lentigines (hyperpigmented macules), hyperkeratosis (thickening of the skin), moles (fleshy papules), and fine and deep wrinkling including cutis rhomboidalis (thick and deep furrowing of the neck). Features of photo carcinogenesis include actinic keratosis (a premalignant lesion), squamous-cell carcinoma, basal-cell carcinoma, and melanoma. Most individuals presented with an overlap of features of acute and chronic photodamage except for two children who presented with only acute photodamage. As there is no statistically significant difference in overall photodamage across all age groups, subanalysis revealed significant difference in total number of individuals with acute photodamage (P < 0.001), photoaging (P = 0.006), actinic keratosis (P < 0.001), and cancers (P < 0.001) across the three different age groups (children, adults, and middle age/elderly). Features of acute photodamage were not significantly related (P = 0.75) with sun exposure while doing their daily work.

Table 4:
Features of photodamage in study participants
Figure 1:
Most affected parts of the body such as face, neck, upper chest, upper back, and scalp are shown in descending order.
Figure 2:
Images showing photoaging of solar lentigines and skin cancer on the dorsum of foot (a), hyperkeratosis, fine and deep wrinkling with cutis rhomboidalis on the nape and upper back (b), actinic keratoses on the scalp (c), ephelides and squamous cell cancers on the face (d).

Comorbidities reported by participants include shortsightedness in one (3.5%), deafness in two people (1.4%), seizures in two (1.4%), recurrent respiratory symptoms in two (1.4%), stroke, poor eyesight, reduced night visions, and mental retardation in one (0.7%) participant each. Previous surgical intervention (biopsies and excision) was documented in 19 (13.4%) individuals, whereas various medical interventions were documented in 23 (16.2%) individuals. Medical interventions include use of 5-fluorouracil cream, tretinoin, chemotherapy with carboplastin, epirubicin, and dexamethasone. Radiotherapy was employed in one of the subjects with invasive carcinoma unsuccessfully.

The DLQI of 88 participants was analyzed. Overall mean effect of albinism and photodamage on the QoL of participants was 6.34 ± 4.47, which corresponds to moderate effect. The median effect was 5.0 (interquartile range was 3–8). Only one of the participants presented with no effect on the QoL, whereas the maximum effect was 24. Table 5 summarizes the domain of “symptoms and feelings” was the most affected followed by “daily activities” (5.56), leisure, work, personal relationship, and treatment in descending order and least affected was treatment, according to the mean rank using Friedman test; P-value <0.001 (significant difference in domains). The posthoc test performed using Wilcoxon sign rank test, based on positive ranks, showed significance in all pairs tested, except personal relationship versus work [Table 6].

Table 5:
Effect of albinism and photodamage on quality of life
Table 6:
Relationship between the different domains of quality of life


Most of the health implications of albinism are largely preventable as they depend on exposure to ultraviolet radiation from sunlight hence requires public health intervention.[9] This study reviews knowledge and practice of sun exposure in light of the clinical features of photodamage.

This study showed people with albinism are predominantly of younger age group with mean age of 23 ± 15.1 years, and 88.1% below the age of 30 years. This does not differ from results of studies carried out three to four decades ago in Cameroun, Tanzania, and Nigeria.[10,11,12] The participants represent active members at the association’s meetings and activities; and those who can afford access to healthcare at a tertiary hospital. Previous studies have documented an increased mortality and morbidity as a result of features of photodamage and skin cancers which may account for low prevalence of albinism above age 30.[1,10,11,12] A recent report from Brazil also noted similar findings, with greater than 30% of their series being <18 years; however, they had more people living longer with albinism presenting at their facility. The oldest age reported from Brazil was 92 years, whereas this study reported 61 years.[13] This may be related to better developed health facilities including health insurance schemes and designated cancer screening centers.[13]

The Igbo tribe of South-East Nigeria was the predominantly affected tribe with albinism probably as a result of their endogamous communities where consanguinity is likely.[9] This is in consonant with the ethnic variability of the prevalence of albinism in other African countries such as Zimbabwe, South Africa, and Cameroun.[14,15,16] In South Africa, Kromberg and Jenkins found the overall prevalence of albinism in ethnic groups in Soweto and Johannesburg to be 1 in 3900. In terms of ethnicity, the prevalence was lowest (1 in 4794) among the Xhosa people and highest (1 in 2041) in the Southern Sotho population.[14] This was attributed to high level of consanguinity among the latter population.[14] The prevalence in Zimbabwe ranges from 1 in 1000 among the Tonga community in the Zambezi valley, to 1 in 4132 among school children in the country.[15] The highest prevalence was observed in the capital city, Harare.[15] The Bamileke tribe in Cameroon had the highest number of albinos with a prevalence of 1 in 11,900 attributable to high inbreeding in the community.[11]

Ninety percent of respondents had some form of knowledge on the various forms of sun protection. There appears to be a disconnect between the level of information on photoprotection and the number of individuals who practice sun protection which was only 72.5%. Despite frequent notable activities by the albinism foundations in the last two decades in Nigeria, only about 26% of the volunteers reported being informed by the group on the need for sun protection.[17] Lund and Taylor noted a probable cause of high prevalence of photodamage as discordance in the knowledge and use of sun protection, such as wearing face caps instead of wide-brimmed hats for face protection. One of the proposed strategies for management of photodamage was regular supply of affordable sunscreen, as well as regular and consistent use.[18]

Despite the knowledge of need for sun protection in 90.8%, 57% participants had daily sun exposure between 8 am and 4 pm; and 43% had work that exposed them to the sun. Few participants practice sun avoidance as a means of photo protection, which explains the high prevalence of sun damage recorded in this study. The high prevalence of photodamage may also be a factor of the inadequacy of the knowledge of photo protection.

There is early significant sun exposure in childhood, resulting in early onset of features of acute and chronic photodamage. Apart from two participants, everyone in the pediatric age group presented with features of acute (sunburn) and chronic photodamage. There is great ignorance of the scientific and genetic basis of albinism in Africans. Some misconceptions include absence or missing topmost layer of the skin, punishment for ancestral wrong, conception during menstruation, and maternal waywardness.[9] This may greatly determine how individuals with albinism respond to public health and health education measures to prevent photodamage.[10,19,20]

In spite of the knowledge of sun damage and the need for photoprotection in a large number of our patients, there was still 95.8% prevalence of photodamage among the cohort which was similar to findings by Okoro and Olumide three to four decades ago.[10] Madubuko and Onunu in an urban hospital in Southern Nigeria reported the prevalence of photodermatoses as 78.1% and 9.6% in the albinos and controls, respectively.[21] In this study, photodermatoses identified were solar lentigenes (63%), photoaging (45.2%), actinic keratosis (28.6%), sunburn (16.3%), and skin cancers (12.3%).[21] The hostility of the Nigerian sun and the inadequate use of sun protection were attributed as the probable causes of the high prevalence.[21]

Lookingbill et al. observed a higher percentage of actinic keratosis in their study population. Ninety one percent of those above 20 years had actinic keratosis, whereas 100% of those above 30 years were affected. Wrinkling on the back of the hands and solar elastosis of the back of the neck were nearly universal in patients above 10 years.[22] Earlier studies in Nigeria and Tanzania noted premalignant lesions in every subject by 20 years; and chronic skin damage in all infants with OCA by 1 year.[10,23] Opara and Jiburum in consonance with studies by Mabula et al. in North Western Tanzania, and Yakubu and Mabogunje in Northern Nigeria reported squamous cell carcinoma as the most common skin cancer reported in albinos with head and neck being the most affected sites.[24,25,26] Our study noted features of photodamage in the areas most exposed to the sun such as the face, neck, upper chest, upper back, and scalp [Figure 1].

The QoL was impaired in more than 99% of the adult participants and the greatest effect was in the domain of symptoms and feelings followed by daily activities (5.56), leisure, work, and personal relationship. The least affected was that of treatment. Some factors that may compromise the QoL of people with albinism include lack of social acceptance, stigma from colleagues, fellow students, family, and the society at large and low socioeconomic status.[9] They are more likely to drop out of school and face more difficulty in employment and marriage compared to the rest of the population.[10] A study by Kiprono et al. in Tanzania reported about 50% of the study population were unemployed, and half felt they had experienced discrimination by employers due to albinism.[27] Lund[15] also reported similar difficulties in people with albinism encountered in obtaining employment, whereas Baker et al. highlighted the prejudices they faced from employers, also emphasizing both economically and for social acceptance.[28,29] Another study carried out by Lund and Gaigher in a special school in South Africa found that 86.8% of the respondents thought people with albinism (PWA) had fewer friends than others, and 36.9% found mixing at social gatherings difficult.[30] The use of sunscreen from childhood reduces the chances of developing skin cancer in the general population by around 78%. This is likely to be greater in people with albinism.[31] Educating those affected with albinism, the general public, especially parents, teachers, and health workers, about the adverse effect of sun exposure in PWA is of utmost importance. Screening program could be initiated in schools and communities for early detection and management of skin cancers when such treatment is most effective.[32] It was suggested that a centralized registry for PWA could facilitate free annual skin examinations, increased rates of early detection, and ensure access to treatment.[24]

Early genetic counseling may be helpful as the two cardinal variables in the albino–skin cancer association are inheritance and sunlight.[10] Pamphlets detailing genetic and health information on albinism are available in northern South Africa, both in English and the vernacular languages. Genetics nurses also give regular talks on local radio to raise awareness.[33] TAF in Nigeria has various programs in place including the Albinism Education and Social Awareness Initiative.[34] The Nigerian government has recently signed into law the disability bill; and the Ministry of Education has constituted the committee to review of the policy that would “facilitate and improve the lives of persons with albinism through access to social services such as education, healthcare, and others.”[35]


Some of the parameters such as color of the eyes, hair, and skin at birth and quantification of sun exposure relied on recall of the participants hence subject to error. The participants were those who responded to the invitation through the Albino foundations and via personal invitations of one another and the dermatologists through the clinic. It is possible that several people with albinism in the community and the working class in a busy metropolitan city may not have responded.

This picture cannot be generalized to reflect the entire country and may not represent what obtains in a rural setting.


This study suggests that there is significant sun exposure in childhood resulting in early onset of features of acute and chronic photodamage. Photodamage does not appear to be a function of work exposure, but rather a lifestyle of non- or inadequate use of protective materials and sun avoidance. Inspite of the increasing awareness and campaigns on the need for photo protection and use of sunscreen amongst albinos, and efforts by government agency, the prevalence of photodamage among people with albinism is still high. There is a need for advocacy for increased awareness, behavioral changes; specifically, sun avoidance and use of sun protective materials. Individuals with albinism should have regular periodic cancer screening which will help in prompt diagnosis and early management, and consequently low mortality.

Financial support and sponsorship

Grant by Central Research Committee (CRC, 2016/02) of the University of Lagos.

Conflicts of interest

There are no conflicts of interest.


The authors are grateful

  1. to the grants from the Central Research Committee (CRC, 2016/02) of the University of Lagos for data collection,
  2. for Specialist Residents in Dermatology, Lagos University Teaching Hospital,
  3. to Abigail A. Adegbulu, the research coordinator,
  4. to the nursing staff of the Guinness Eye Centre, Lagos University Teaching Hospital,
  5. to the members of TAF, TANA, and OAM, and
  6. to Orji Ugochukwu, who coordinated the invitation of members of the albino foundation.


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Oculocutaneous albinism; photoaging; photodamage; skin cancers; sunburn; sun exposure; sun protection

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