Elejalde syndrome: report of a case and review of the literature.
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.
Department of Dermatology, Hospital das Clínicas, University of Sao Paulo Medical School, Sao Paulo, Brazil. cahali@ig.com.br
Juliana Burihan
JB
Cahali
Solange Assuncion Villagra
SA
Fernandez
Zilda Najjar Prado
ZN
Oliveira
Maria Cecília da Mata Rivitti
MC
Machado
Neusa Sakai
NS
Valente
Mírian Nacagami
MN
Sotto
D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000151:congenital / Q000473:pathology*; D010859:Pigmentation Disorders / Q000150:complications / Q000151:congenital / Q000473:pathology*; D013577:Syndrome