Elejalde syndromeE70.3

Elejalde et al., 1977

Rare, congenital or early childhood acquired syndrome characterized by partial albinism with characteristic lackluster, silvery hair (disturbance of melanosome transfer from melanocytes to keratinocytes), bronze staining of sun-exposed skin areas and severe neurological symptoms (cerebral seizures, severe muscle hypotension, mental retardation). The immune system is not affected (see Griscelli syndrome below). Furthermore, disorders of the visual functions are described.

Very rare. So far, less than 100 cases have been described worldwide, mainly in Colombia, Mexico, USA.

Unknown. Described are among others austosomal recessive inherited disorders of early melanin information.

No gender preference.

Griscelli syndrome type 2 with cutaneous and immunological, but without primary neurological symptoms

The affected patients usually die in childhood or adolescence before reaching the age of 18 LJ, especially due to neurological dysfunctions and psychomotor regression.

There is evidence of a complex relationship between Elejalde's syndrome (ES) and Griscelli's syndrome (GS). Type 1 GS with cutaneous and neurological symptoms is caused by mutations in the MYO5A/MYH12 gene, which codes for myosin 5A. This is a motor protein on actin and is responsible for the intracellular transport of organelles in melanocytes and nerve cells. Probably type 1 of Griscellie syndrome and Elejalde syndrome are allelic diseases.