Albinism (overview) E70.3

Albinism is the genetic absence of pigment. Clinically, it is a group of genetically different diseases characterized by a generalized or partial hypomelanosis of the skin, hair and eyes (oculocutaneous albinism - OCA) or of the eyes only (ocular albinism). (Note: only albinimus type IA and generalized vitiligo show a complete loss of pimples). The underlying cause is a congenital, mostly autosomal recessive inherited disorder of melanin synthesis with normal intraepidermal melanocyte count.

The following entities can be distinguished:

• Oculocutaneous albinism (OCA types 1-7)
• Ocular albinism (dermatologically not relevant): 5 forms with varying degrees of iris depigmentation. Additionally photophobia, possibly nystagmus, strabismus, hypoplasia of the fovea centralis.
• Other, rare, syndromatic forms of albinism (also "albinoidism") with generalized, pronounced hypopigmentation and additional organ manifestations that are crucial for morbidity and prognosis:
  • Hermansky-Pudlak syndrome
  • Chédiak Higashi Syndrome
  • Cross Syndrome
  • Griscelli Syndrome

1. Böhm M (2015) Differential diagnosis of hypomelanosis. dermatologist 66: 945-958