Albinism (oculocutaneous)

In oculocutaneous albinism the defect in melanin production is expressed in the hair, skin and eyes.

There are more than ten forms of oculocutaneous albinism - all are inherited in an autosomal recessive manner.

In some forms there are associated defects in other organ systems e.g. haematopoiesis.

From an early age for people with oculocutaneous albinism, who lack melanin and are highly susceptible to UV radiation damage and skin cancer, especially cutaneous squamous cell carcinoma (2).

With respect to reducing risk of skin cancer, people with oculocutaneous albinism should be advised (2):

• to be diligent about sun protection and avoid unnecessary UV exposure
• to make use of shade (both built and natural) and reduce outdoor activities during maximal UV radiation period
• suggested sun protective measures include daily use of protective clothing, hats, sunglasses with a UV 400 rating and broad spectrum, high SPF (50+) sunscreen on the ears, lips, eyelids, and neck as well as all other exposed bodily sites
• hats should have a broad brim, or legionnaire style neck covering to provide adequate protection to the head, neck, and ears
  • this will also reduce the amount of UV radiation reaching the eyes when worn in conjunction with sunglasses with a UV 400 rating

Reference

1. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43
2. Nicholson A, Abbott R, Wright C Y, Kamali P, Sinclair C. Skin cancer prevention and sunscreensBMJ 2025; 390 :e085121