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Related Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
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The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
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Related Experiment Video

Updated: Mar 26, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
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TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION.

J G R Kromberg, J Bothwell, S H Kidson

    East African Medical Journal
    |February 6, 2016
    PubMed
    Summary

    Oculocutaneous albinism (OCA) is common in Southern African blacks, with OCA2 and OCA3 being the most prevalent types. Clinical examination can distinguish these forms, crucial for awareness and education due to associated health risks.

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    Area of Science:

    • Medical Genetics
    • Dermatology
    • Ophthalmology

    Background:

    • Oculocutaneous albinism (OCA) is a prevalent inherited disorder in Southern African black populations.
    • Molecular diagnostics aid in confirming OCA diagnosis and type, facilitating prenatal testing.

    Purpose of the Study:

    • To classify common types of albinism in Southern Africa.
    • To determine the clinical implications associated with each albinism type.

    Main Methods:

    • A descriptive survey was conducted in Gauteng, South Africa, and Lesotho.
    • Clinical and dermatological examinations were performed on 189 subjects with OCA from various sources.
    • Subjects were classified based on clinical presentation.

    Main Results:

    • Four clinical forms of OCA were identified: OCA2 (82% of subjects) with subtypes (OCA 2a, OCA 2b, BOCA), and OCA3 (red/rufous albinism, ROCA).
    • Clinical differentiation of these forms was achievable without molecular genetic testing.
    • OCA2 and OCA3 were identified as the most common types in this population.

    Conclusions:

    • OCA2 and OCA3 are the predominant forms of albinism in the Southern African black population.
    • Clinical classification is feasible and essential for understanding the implications of albinism.
    • Findings underscore the need for increased education and awareness among healthcare professionals and the public regarding albinism, its risks (e.g., skin cancer), and social implications.