Albinism

Normal skin pigmentation is dependent upon efficient melanin synthesis and melanosome maturation within melanocytes, melanosome transfer to neighbouring keratinocytes and melanosome degradation concomitant with keratinocyte terminal differentiation. Several hundred genes are known to modulate the pigmentation type or pattern in skin, hairs/coat and eyes in mammals, during or after development, by acting directly or indirectly on the pigment cell lineage. Among these, oculocutaneous albinism is a rare genetic disorder characterized by generalized hypo- or depigmentation of the skin, hair and eye and by ophthalmological anomalies caused by a deficiency in melanin biosynthesis. Oculocutaneous albinism is a clinically and genetically heterogeneous disorder with a total of seven genes/loci so far identified. In addition, there are several syndromic forms of albinism, affecting the normal function of other organs, which can be grouped as Hermansky–Pudlak syndrome, Chédiak –Higashi syndrome and Griscelli–Prunieras syndrome. Management needs to be adapted to the severity of the presentation and an accurate diagnosis is important for planning the follow up in syndromic forms.