We have read with interest the recent article by Durán-McKinster et al1 that gave an overview (the first since Elejalde's description in 1979) of clinical and morphological findings in 7 patients with Elejalde syndrome (ES), and we would like to add some comments.
The silvery hair syndromes have indeed rather misleadingly been referred to as partial albinism syndromes. Albinism comprises a group of congenital hypopigmentation disorders related to mutations in genes orchestrating the melanin formation pathway (tyrosinase, p-gene, tyrosinase-related protein 1). The cutaneous melanocytes are not at all absent, as the authors state. The silvery hair syndromes phenotypically resemble albinism, but hypopigmentation is the result of a failure to transfer melanin to keratinocytes as a result of impaired melanosome transport. In Griscelli syndrome (GS) and Chediak-Higashi syndrome (CHS), mutations in genes involved in organelle transport and biogenesis have been found.
Lambert J, Vancoillie G, Naeyaert JM. Elejalde Syndrome Revisited. Arch Dermatol. 2000;136(1):120. doi: