Elejalde syndrome
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| Elejalde syndrome | |
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| Elejalde syndrome is inherited in an autosomal recessive manner | |
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Elejalde syndrome or neuroectodermal melanolysosomal disease[1] 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.[2][3] The changes to hair and skin pigmentation are associated with altered melanosome trafficking.[3]
It is associated with MYO5A.[citation needed]
See also
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Neuroectodermal melanolysosomal disease". www.orpha.net. Archived from the original on 28 May 2023. Retrieved 30 July 2023.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ 3.0 3.1 Cahali, Juliana Burihan; Fernandez, Solange Assuncion Villagra; Oliveira, Zilda Najjar Prado; Machado, Maria Cecilia da Mata Rivitti; Valente, Neusa Sakai; Sotto, Mirian Nacagami (2004). "Elejalde Syndrome: Report of a Case and Review of the Literature". Pediatric Dermatology. 21 (4): 479–482. doi:10.1111/j.0736-8046.2004.21414.x. ISSN 0736-8046. PMID 15283796. S2CID 7836037.
External links
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