Elejalde syndrome: report of a case and review of the literature |
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Authors: | Cahali Juliana Burihan Fernandez Solange Assuncion Villagra Oliveira Zilda Najjar Prado Machado Maria Cecília da Mata Rivitti Valente Neusa Sakai Sotto Mírian Nacagami |
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Affiliation: | Department of Dermatology, Hospital das Clínicas, University of Sao Paulo Medical School, Sao Paulo, Brazil. cahali@ig.com.br |
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Abstract: | 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. |
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