Albinism : a case report

Abstract

Albinism means the absence of cutaneous pigments. This is a rare hereditary disorder of the skin found in all races. The basic defect is an inherent deficiency of the enzyme tyrosinase usually found in melanocytes. Albinism can be total or partial. The occurrence of total albinism in Malta, in spite of the smallness of the country, is very rare. A case of total albinism in a Maltese child is here reported. At birth, features of total albinism were present. Her skin is extremely white which can be seen by contrast with the normally pigmented skin of the nurse holding her. Her hair is fine, silky and whitish. Her eyebrows and eyelashes are also white. She has gross photophobia and nystagmus. In sunlight or bright artificial light, her eyes are kept tightly closed. Because of this photophobia, and the harmful effect of sunlight on the unprotected unpigmented skin, the child is never taken out in the sunlight and is kept indoors most of the time.