Albinism and Palliative Care

Dr Rabiya Abdu Razak Malayil and Dr Saurabh Vig, New Delhi

Albinism is an autosomal recessive disorder caused due to the impairment of melanin biosynthesis. It is closely associated with specialized ectodermal derived cells originating from extacutaneous or cutaneous. The two common types of albinism are ocular and oculocutaneous albinism. The oculocutaneous albinism leads to hypo pigmentation of skin, hair and eyes, and is associated with visual abnormalities. Ocular albinism on the other hand is characterized by visual symptoms only.

The non-syndromic oculocutaneous albinism is an autosomal recessive disorder caused by the complete absence of melanin in melanocytes. These individuals are unable to metabolize tyrosine into dopamine using tyrosinase enzyme, which leads to the characteristic features of pale complexion, white hair, red/blue/green/light brown eyes due to the pigment formation in the iris. The absence or decrease in melanin in such individuals make these people highly susceptible to the harmful effects of ultraviolet radiation leading to development of actinic keratosis or skin cancers before the age of 30 years. Early education of albino patients and families to reduce sun exposure, use of protection against ultraviolet radiation and regular skin examination every 6 monthly is of at most importance.

Melanin and Skin Cancer

Eumelanin (brown or black) provides protection against oxidative damage to DNA caused from stress and solar radiation. In fair skinned individuals, the melanin present in the OCA is predominately pheomelanin (yellow or red), which offers minimal photo protection and increased biosynthesis of carcinogenic reactive oxygen species during its biosynthesis. In albinos with minimal melanin, the extend of DNA damage can exceed the repairing mechanisms leading to higher risk of keratinocyte skin cancers like squamous cell carcinoma and basal cell carcinomas in sun exposed areas.

Prognosis of Albinism

The life expectancy for individuals with non-syndrome OCA is similar to that of the general population. These individuals however have an increased risk of mortality due to their high susceptibility to develop skin cancers. This risk of mortality due to skin cancers is proportional to various factors such as the relative amount of sun exposure in a geographic area, socioeconomic issues such as having restricted access to sunscreen lotions, having limited knowledge towards sun protection measures, cultural differences in clothing and having limited access to healthcare services which results in late presentation, non-compliance and delayed treatment of albinism.

Psychosocial issues in Albinism

Individuals with albinism often face psychological challenges which impacts their social functioning. They anticipate and experience fearful interaction with others even when symptoms are not present, and thereby develop avoidance-coping mechanisms. This may prevent them engaging in social and recreational activities or hinder their job employment opportunities.

These individuals also experience stigma associated with albinism. Individuals with albino can face persecution, violence, prejudice and social exclusion. Though their intelligence is similar when compared to general population, they develop learning disabilities due to their visual impairment and decreased visual acuity.

Most of these patients therefore report feelings of isolation and depression with thoughts of suicide due to their physical appearance. A few studies have also highlighted a higher rate of attention deficient disorder and other psychological disorders in chronic skin disorders like albinism.

Palliative Care in albinism

Evidence shows that albino patients reported clinically significant impairment of their dermatological quality of life coupled with depression and anxiety. Periodic screening for anxiety, depression and quality of life should be done for patients of chronic skin conditions. Psycho dermatological issues are also highly common in patients with chronic disease. A detailed evaluation and early referral to palliative care is of at most importance in albinism.

A palliative care physician must work in close liaison with the treating dermatologist to help setup realistic goals of care and provide detailed counselling to these individuals and their caregivers regarding the course of the disease, the expected complications (such as skin cancer), and the possible ways to avoid them. Regular screening for depression and anxiety will help improve a patients’ compliance to their dermatological treatment. Integrating palliative care services for these individuals will therefore help in the management of psychological symptoms, reduce functional impairment and improve the overall quality of life across the illness trajectory for these individuals.


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About the Authors:

Dr Rabiya Abdu Razak Malayil is a Senior Resident with an MD in Palliative Medicine, at the Department of Onco-Anaesthesia and Palliative Medicine, AIIMS, New Delhi.

Dr Saurabh Vig is an Assistant Professor at the Department of Onco-Anaesthesia and Palliative Medicine, NCI (Jhajjar), AIIMS, New Delhi.

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