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Elejalde disease

Tuesday 14 October 2003

Definition: Elejalde syndrome is a condition characterized by mild hypopigmentation and severe, primary neurological abnormalities. It has also been called neuroectodermal melanolysosomal disease.

The Elejalde syndrome (MIM.256710) is a rare autosomal recessive disorder characterized by the triad of silvery hair, hypopigmented skin (sometimes referred to as partial albinism), and severe dysfunction of the central nervous system (hypotonia, seizures, and mental retardation).

There is no immunodeficiency as seen in the type 2 Griscelli syndrome or Chediak–Higashi syndrome, which share clinical features with Elejalde syndrome.

It has been proposed that Elejalde syndrome and Griscelli syndrome type 1 (MIM.214450) may represent the same entity. If so, it is caused by a mutation in the gene encoding myosin VA (MYO5A), which maps to chromosome 15q21.

Histopathology

Melanin granules in the basal layer are of irregular size and distribution with overall reduced pigmentation. Hair shafts are similar to those seen in the Griscelli syndrome.

Etiology

- mutations in MYO5A, which codes for an actin-based molecular motor.