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January 2000

Elejalde Syndrome Revisited—Reply

Arch Dermatol. 2000;136(1):120-121. doi:

In reply

We are pleased to see that our recent article1 generated some interest among colleagues.

In the last decade, silvery hair syndromes have been the subject of clinical and genetic studies. After studying 17 patients with silvery hair syndrome (9 with Chediak-Higashi syndrome [CHS], 2 with Griscelli syndrome [GS], and 6 with Elejalde syndrome [ES]), we believe the so-called albinism phenotype for silvery hair syndrome (SHS) is incorrect. Hair color in albinism varies from white to light yellow, while in SHS a silvery-leaden color with a peculiar shine is observed, especially in the presence of natural light. In both conditions, hypopigmented skin is observed at birth, but after sunlight exposure, a persistent tanned-bronzed skin is present in patients with SHS, while this is never observed in albinism. We suggest the term albinism phenotype when a reduced melanin synthesis in melanocytes of the skin, hair, and eyes is present.

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