Elejalde syndrome

Elejalde syndrome
Elejalde syndrome is inherited in an autosomal recessive manner

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.

Left, center,right)Silvery gray to golden hue of hair over the scalp, eyebrows, and eyelashes(silvery sheen over most of the body hair; brownish-black pigmentation of the skin over the sun-exposed sites, especially on the face, neck and extensor aspects of the upper and lower limbs)

See also

References

  1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Neuroectodermal melanolysosomal disease". www.orpha.net. Archived from the original on 28 May 2023. Retrieved 30 July 2023.
  2. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. 1 2 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.
Classification
External resources


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