Elejalde syndrome: Report of a case and review of the literature

被引：12

作者：

Cahali, JB ^{[1
]}

Fernandez, SAV ^{[1
]}

Oliveira, ZNP ^{[1
]}

Machado, MCD ^{[1
]}

Valente, NS ^{[1
]}

Sotto, MN ^{[1
]}

机构：

[1] Univ Sao Paulo, Sch Med, Hosp Clin, Dept Dermatol, Sao Paulo, Brazil

来源：

PEDIATRIC DERMATOLOGY | 2004年 / 21卷 / 04期

关键词：

D O I：

10.1111/j.0736-8046.2004.21414.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Elejaide 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 Elejaide syndrome and review Elejaide, Griscelli, and Chediak-Higashi syndromes.

引用

页码：479 / 482

页数：4

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