Elejalde syndrome explained
| Elejalde syndrome |
| Synonyms: | Griscelli syndrome type 1, Acrocephalopolydactyly |
| Field: | Medical genetics |
Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound central nervous system dysfunction, no immune defects, and hair with a metallic silvery sheen.[1] [2] The changes to hair and skin pigmentation are associated with altered melanosome trafficking.[2]
It is associated with MYO5A.
See also
Notes and References
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
- Cahali. Juliana Burihan. Fernandez. Solange Assuncion Villagra. Oliveira. Zilda Najjar Prado. Machado. Maria Cecilia da Mata Rivitti. Valente. Neusa Sakai. Sotto. Mirian Nacagami. Elejalde Syndrome: Report of a Case and Review of the Literature. Pediatric Dermatology. 21. 4. 2004. 479–482. 0736-8046. 10.1111/j.0736-8046.2004.21414.x. 15283796. 7836037.
