Albinism

Question 1

What is albinism?

Answer 1

Albinism is a group of inherited disorders characterized by partial or complete reduction in melanin synthesis.

Question 2

What causes albinism at the biochemical level?

Answer 2

It results from abnormal activity or levels of the enzyme tyrosinase, which is essential for melanin production

Question 3

Is the prevalence of albinism the same worldwide?

Answer 3

No, it is variable around the world.

Question 4

Which type of albinism is most common in sub-Saharan Africa?

Answer 4

Oculocutaneous albinism type 2 (OCA2).

Question 5

How do the different types of albinism vary clinically?

Answer 5

They show varying degrees of pigmentary dilution in the skin, hair, and eyes.

Question 6

What early skin changes are seen in people with albinism?

Answer 6

Solar lentigines and solar keratoses can develop at a young age due to sun exposure.

Question 7

What eye abnormalities are associated with albinism?

Answer 7

Nystagmus, photophobia, severe myopia, and sometimes blindness.

Question 8

What are the main complications of albinism?

Answer 8

Photoaging and early development of non-melanoma skin cancers and melanomas.

Question 9

What is the first step in managing a patient with albinism?

Answer 9

Counselling the patient and family about the condition and its lifelong care needs.

Question 10

What sun protection advice should be given to individuals with albinism?

Answer 10

Strict sun avoidance and protection from birth, including regular sunscreen use, protective clothing, and wide-brimmed hats.

Question 11

How much sunscreen may individuals with albinism need?

Answer 11

They may require up to six sunscreens per month for adequate protection.

Question 12

Why is continuous skin surveillance important in albinism?

Answer 12

To enable early detection of skin cancers, which develop more easily due to lack of melanin protection.

Question 13

Why should patients with albinism be referred for eye testing?

Answer 13

Because ocular complications such as nystagmus, photophobia, and refractive errors are common and require management.