New report sheds light on challenges for persons with albinism
Paper identifies limitations on human rights protections for people with albinism and provides recommendations (1,800 words, 9 minutes)
A groundbreaking report issued last month has cast a harsh spotlight on the struggles faced by people with albinism in the United Kingdom, detailing widespread discrimination, lack of access to healthcare and education, and barriers to secure employment.
The preliminary research, commissioned by the United Nations Independent Expert on albinism rights and conducted in partnership with Staffordshire University and the Albinism Fellowship U.K. & Ireland, paints a sobering picture of a marginalized group confronting stigma, prejudice and human rights violations.The report was commissioned as part of the mandate of the UN Independent Expert on the enjoyment of human rights by persons with albinism, in partnership with Staffordshire University and with additional support from the Albinism Fellowship U.K. & Ireland.
For this report, researchers conducted a scoping review of pertinent academic and grey literature. They also interviewed key informants, including people with albinism and their families living in the U.K. Information was further obtained from a small-scale survey of people with albinism and their family members.
Also, a roundtable discussion was convened and attended by the UN experts, six persons with albinism, two family members, and representatives of charities and academics working on albinism and disability.
Findings in the report highlight that while the U.K. has established frameworks and legislation that can, in principle, safeguard the right to health of persons with albinism, in practice, many face barriers to enjoying these rights. This population experiences difficulties in accessing benefits and social protection and experiences obstacles to healthcare access, as well as accessing education and employment on equal terms with other individuals.
“It's really hard to get a job as someone with albinism,” Kristina Venning Rose, trustee and co-chair of Albinism Fellowship U.K. & Ireland, said in a video about the report. She recounted an experience applying for a full-time position at a media organization for which she had been hired on short-term contracts. “I had a phone interview, and a person said, ‘Oh, my goodness, you're amazing. You're fab. You can start on Monday.’ And I turned up, and they literally looked at me and said, ‘You can't do this job. You'll scare off all the people that we're going to work with.’”
Recommendations from the report specific to persons with albinism suggest that U.K. authorities must adopt measures to:
Improve the provision of healthcare information to persons with albinism and their families from the moment a child with albinism is born.
Improve the availability of healthcare services, including genetic testing, to persons with albinism and their families living across the U.K.
Sensitize and train healthcare workers and other professionals (teachers, employers) on albinism and conditions likely to affect persons with albinism, as appropriate to stakeholder job roles.
Combat societal stigma and discrimination and support persons with albinism or their families who experience it.
Bottom line: Despite regulations and social programs intended to ensure equal access to healthcare and other human rights, persons with albinism still face barriers and discrimination in the U.K. This new report provides some direction for stakeholders to improve support for this population.
Register now: Acne Summit
On June 22, 2024, from 10 a.m. to 1 p.m. EDT, Skin Spectrum Summit presents the inaugural Acne Summit, a one-day virtual medical education event seeking the highest-quality acne education to help Canadian patients receive the best care possible. Drs. Geeta Yadav and Jerry Tan are the co-chairs of the event.
With the support of our sponsors Bausch Health, Cipher Pharmaceuticals, Sun Pharma, Galderma, and L’Oreal, you can join your colleagues to learn more about the incidence of and the latest therapies for acne through live Q&As and lectures.
The Acne Summit is a landmark opportunity to learn to:
Effectively communicate about acne with patients and their families
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No-cost registration is now available at this link:
Watch this space for more details.
From the literature on albinism
Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge
This paper reviews and characterizes clusters of albinism in Brazil based on a scientific literature search, newspapers, and websites.
Researchers identified and characterized 18 clusters, 13 of which were confirmed by scientific studies. Seven clusters are in the Northeast region of Brazil, with a population of predominantly African ancestry. Researchers identified another seven in Indigenous communities, particularly among the Kaingaing in South Brazil.
The authors write that isolation and inbreeding associated with founder effects are the most plausible explanations for the observed clusters. They note molecular studies and clinical classification are still limited.
Localizing these clusters in deprived regions with poor infrastructure makes the populations especially vulnerable to the social and clinical consequences of lacking melanin. The authors write their finding reinforces a need for a tailored approach to these communities, including appropriate medical care, social support, and genetic counselling.
What have we learned about preventing NMSC from albino patients from Malawi? Secondary prevention maintained over time
For this paper, data on the clinical and tumour characteristics of Albino patients was collected from three surgical treatment campaigns conducted in the Nkhotakota district of Malawi between 2019 and 2023.
Between 22 and 75 albino patients (mean age <28 years) were evaluated in each campaign. Most patients did not use sunscreen in a way that provided optimal photoprotection. Regarding tumours, the proportion of basal and squamous cell carcinomas ranged from 1:1 to almost 2:1. Of 156 albino patients, 34 attended the treatment campaign more than once. However, of the 19 patients with 30 tumours operated on in 2021, only seven were assessed the following year (12 were lost to follow-up). At least 14 albinos with locally advanced tumours were evaluated.
The authors conclude that distributing photoprotective clothing could be more efficient or perhaps an earlier measure to provide sunscreen to improve sun protection for individuals with albinism in rural Africa. They also write that very-high-risk patients—those with previous interventions with positive margins or high-risk tumours, intense actinic damage, and new tumours constantly appearing, especially those presenting with squamous cell carcinomas—require close follow-up and treatment. There is a need for programs in collaboration with governmental bodies—potentially supported using teledermatology tools—to search for and monitor albino patients and allow for early diagnosis and treatment of skin cancers before the lesions become locally advanced or metastatic.
Missing heritability in albinism: Deep characterization of a Hungarian albinism cohort raises the possibility of the digenic genetic background of the disease
The authors of this paper note the oculocutaneous, ocular, and syndromic forms of albinism follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. With this study, they aimed to clarify the genetic background of a Hungarian albinism cohort.
Using a 22-gene albinism panel, investigators assessed the genetic background of 11 of 17 Hungarian patients in a cohort. The researchers performed whole exome sequencing for the remaining six patients with unidentified genetic backgrounds.
The investigation revealed a novel, previously unreported rare variant (N687S) of the two-pore channel two gene (TPCN2). The N687S variant of the encoded TPC2 protein is carried by a 15-year-old Hungarian male albinism patient and his clinically unaffected mother.
Findings from segregational analysis and in vitro functional experiments suggest that the detected novel rare TPCN2 variant alone is not a disease-causing variant in albinism. Deep genetic analyses of the family revealed that the patient also carries a phenotype-modifying R305W variant of the OCA2 protein, and he is the only family member harbouring this genotype. The authors conclude their results raise the possibility that this digenic combination might contribute to the observed differences between the patient and their mother, represent the genetic background of the patient’s albinism.
The impact of WhatsApp as a health education tool in albinism: Interventional study
Investigators assessed the impact of WhatsApp as a tool for providing health education among people with albinism.
For this Nigerian study, the active intervention consisted of weekly health education sessions conducted in a WhatsApp group for a total of four weeks. The topics discussed were knowledge of albinism, sun protection practices, the use of sunscreen, and myths about albinism. Participants completed a web-based questionnaire before and after the intervention.
There were 140 participants who completed the pre-intervention questionnaire, and of those 66 completed the post-intervention questionnaire (mean age 28.28 (SD 11.57) years).
Investigators observed a statistically significant increase in overall knowledge (p=0.01), knowledge of sunscreen (p=0.01), and knowledge of sun protection (p<0.01) following the intervention. Before the intervention, a positive correlation was observed between age (r=0.17; p=0.03) and education level (r=0.19; p=0.02) with participants' overall knowledge. However, there was no significant correlation between knowledge and age or education level after the intervention. The authors observed a 5.23% increase in the overall knowledge scores following the intervention.
Canadian Skin of Colour & Diversity Scholarship 2024
This year, the Skin Spectrum Summit Conference & Pfizer Canada are pleased to announce the 2nd annual Canadian Skin of Colour & Diversity Scholarship program.
The scholarship invites dermatology residents across Canada to propose projects to address an education or care gap not wholly or already fulfilled in medical dermatology within underrepresented populations, including Canadians with deeper skin tones, Indigenous people, and other racialized groups.
Selected recipients will be awarded $20,000 to support the development and implementation of their project, which will have a tangible impact on dermatology. The deadline to apply is August 26th, 2024.
Links to apply:
VIDEO: GLODERM Pre-AAD Meeting 2024: Skincare in albinism
This virtual presentation by Dr. Carolina Marçon (São Paulo), “Skincare in Albinism: Learning from Working with Albino Populations in Brazil and Africa,” focuses on the etiology and challenges of albinism and her experiences working with different albino populations.
At the intersection of skin and society
In a press release, UN experts said that Tanzania’s failure to condemn and investigate attacks against people with albinism may constitute serious violations of its obligation to protect people with disabilities.
The UN Committee on the Rights of Persons with Disabilities (CRPD) expressed deep regret for Tanzania’s unwillingness to follow up on three petitions filed to the Committee concerning the mutilation of people with albinism and the lack of accountability for such abuses.
“We call on the State party to urgently and unambiguously condemn any attacks against people with albinism and to investigate any such attacks promptly and effectively,” said Committee member Amalia Gamio Ríos in the release. “Failure to do so sends a message that ritual killings and mutilations are condoned, which amounts to serious violations of the Convention on the Rights of Persons with Disabilities,” Gamio Ríos stated.
The Committee examined three cases that occurred in Tanzania between 2008 and 2010 and found the domestic authorities had not taken effective measures to prevent violence against people with albinism, and so Tanzania had violated its obligations under the Convention in these three cases.
More information is available in the release.
This week
June 10 to 16 is Diabetes Week in the U.K.
June 13 is International Albinism Awareness Day
June 16 is International Day of the African Child
Something to think about in the week ahead. . .
There are three constants in life... change, choice and principles.
—Stephen Covey, U.S. educator (1932–2012)
Next week
In a presentation at the 2023 Indigenous Skin Spectrum Summit, Dr. Edgar Akuffo-Addo, an incoming dermatology resident at the University of Toronto, discussed the underrepresentation of Black and Indigenous participants in atopic clinical trials.
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