- Oculocutaneous Albinism is most common. Non-type 1more subtle – in fair skinned families, may only be obvious in comparison with family members.
- Griscelli, Elejalde and Chediak–Higashi syndromes have been termed “silvery hair syndromes” – generalized, but eyes spared. Griscelli and Elejalde include severe neurological defects, as well as immunological. Immunodeficiency severe in Chediak-Higashi.
- Menkes is X-linked copper defect, progressive CNS degeneration and death in early childhood.
- Selenium deficiency? Only really in malnutrition.
- In later life, homocystinuria.
- Ocular albinism – light coloured eyes mostly rather than pink. Associated with poor visual development. Heterochromia (different coloured eyes) that develops or worsens soon after birth can be seen with congenital Horner’s syndrome (with neuroblastoma) – also part of Waardenburg’s (below).
- Piebaldism looks like vitiligo but is congenital and permanent. Usually affects forehead causing patch of white hair (“forelock”), with or without eyelash and eyebrow involvement. Autosomal dominant. Can occur in tuberosclerosis. Becomes more obvious when surrounding skin becomes tanned.
- Waardenburg syndrome includes piebaldism, but also heterochromia irides (different coloured eyes, or else different colours of same iris, or just pale blue eyes). Subtypes have hypertelorism (increased space between eyes), limb defects, Hirschsprungs, deafness.
- Single depigmented patch: naevus anemicus (vascular, Woods light neg), ash leaf macule of tuberosclerosis (usually multiple) or naevus depigmentosus (identical but single, less likely to be leaf like).
- In later life, vitiligo (autoimmune), post inflammatory (eg eczema, pityriasis), lichen sclerosus and morphoea.
[Hong Liang Tey, Acta Dermato-Venereologica online]