Premium
Elejalde Syndrome: Report of a Case and Review of the Literature
Author(s) -
Cahali Juliana Burihan,
Fernandez Solange Assuncion Villagra,
Oliveira Zilda Najjar Prado,
Machado Maria Cecília da Mata Rivitti,
Valente Neusa Sakai,
Sotto Mírian Nacagami
Publication year - 2004
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.0736-8046.2004.21414.x
Subject(s) - chédiak–higashi syndrome , medicine , differential diagnosis , pathology , central nervous system , dermatology , hair disease
Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak‐Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6‐year‐old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak‐Higashi syndromes.