Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare
autosomal recessive syndrome (only around 10 cases known) consisting of moderate
pigment
A pigment is a colored material that is completely or nearly insoluble in water. In contrast, dyes are typically soluble, at least at some stage in their use. Generally dyes are often organic compounds whereas pigments are often inorganic compou ...
dilution, profound
central nervous system dysfunction, no
immune defects, and hair with a metallic silvery sheen.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .] The changes to hair and skin pigmentation are associated with altered
melanosome
A melanosome is an organelle found in animal cells and is the site for synthesis, storage and transport of melanin, the most common light-absorbing pigment found in the animal kingdom. Melanosomes are responsible for color and photoprotection i ...
trafficking.
It is associated with
MYO5A
Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the ''MYO5A'' gene.
Structure
In the presence of cargo ada ...
.
See also
*
Griscelli syndrome
References
External links
Disturbances of human pigmentation
Cytoskeletal defects
Rare syndromes
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