title: 12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).
abstract: Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.
authors.affiliation: Department of Pediatrics, Medical Genetics, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: J
authors.initials: J
authors.lastname: Ivanovich
authors.forename: S
authors.initials: S
authors.lastname: Mallory
authors.forename: T
authors.initials: T
authors.lastname: Storer
authors.forename: D
authors.initials: D
authors.lastname: Ciske
authors.forename: A
authors.initials: A
authors.lastname: Hing
mesh_terms: D000293:Adolescent; D002493:Central Nervous System Diseases / Q000473:pathology*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D015603:Keratinocytes / Q000737:chemistry / Q000473:pathology; D008297:Male; D008543:Melanins / Q000378:metabolism; D008544:Melanocytes / Q000737:chemistry / Q000473:pathology; D010859:Pigmentation Disorders / Q000378:metabolism / Q000473:pathology*; D012867:Skin / Q000737:chemistry / Q000473:pathology; D013577:Syndrome
chemical_list: D008543:Melanins