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Elejalde Syndrome

Definition and Clinical Features

The Elejalde syndrome is a silvery hair disorder characterized by the triad of silvery hair, hypopigmented skin (sometimes referred to as partial albinism), and severe neurologic dysfunction of the central nervous system resulting in hypotonia, seizures, ocular abnormalities, and mental retardation.

a boy manifesting silver-gray hair-a hallmark sign of Elejalde syndrome
Fig1. Phrase attributed to Churchill — The pattern shown here is a notation for the meaning of the word “chiasmus,” which comes from the Greek letter X (chi).

The disease, also known as neuroectodermal melanolysosomal syndrome, has autosomal recessive Opens in new window pattern of inheritance.

The large irregularly distributed melanosomes in hair resemble those of Griscelli syndrome Opens in new window and Elejalde syndrome is now thought to be allelic to Griscelli syndrome type 1 Opens in new window, resulting from mutations in myosin VA.

However, there is no immunodeficiency as seen in the type 2 Griscelli syndrome Opens in new window or Chediak-Higashi syndrome Opens in new window, which share clinical features with Elejalde syndrome.

It has been proposed that Elejalde syndrome and Griscelli syndrome type 1 Opens in new window (OMIM 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.

Therapeutics

For all of the hair syndromes, early bone marrow or stem cell transplantation is the treatment of choice for patients with an HLA-match.

Bone marrow transplantation reverses the immunodeficiency and prevents the often fatal accelerated phase, but has no effect on pigmentation or on neurologic deterioration.

Given the lack of success of transplantation in patients with mutations in myosin VA, restriction of transplantation to patients with Rab27A mutations has been suggested.

Otherwise, management of the disorder is largely supportive. Antibiotics help to control the recurrent infections, and immunoglobin or immunosuppressive agents have been administered in an attempt to control the lymphohistiocytic or hemophagocytic phases.

Splenectomy has been advocated in patients with the accelerated phase unresponsive to other forms of therapy.

See also:
  1. Elejalde BR, Holguin J, Valencia A, Gilbert EF, Molina J, Marin G, Arango LA (1979) Mutations affecting pigmentation in man: I. Neuroectodermal melanosomal disease. Am J Med Genet 3:65-80.
  2. Ivanovich J, Mallory S, Storer T, Ciske D, Hing A (2001) 12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disese). Am J Med Genet 98: 313-316.
  3. Bahadoran P, Ortonne JP, Balloti R, de Saint-Basile G (2003b) Comment on Elejalde syndrome and relationship with Griscelli syndrome. Am J Med Genet 166A:408-409.
  4. Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, Orozco-Covarrubias ML, Tamayo L, Ruiz-Maldonado R (1999) Elejalde syndrome – A melanolysosomal neurocutaneous syndrome. Clinical and Morphological findings in 7 patients. Arch Dermatol 135: 182-186.
  5. Elejalde BR, Valencia A, Gilbert EF, Marin G, Molina J, Holguin J (1977) Neuro-ectodermal melanolysosomal disease: an autosomal recessive pigment mutation in man. Am J Hum Genet 29: 39A.
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