12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).
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.
Ivanovich
J
J
Department of Pediatrics, Medical Genetics, Washington University School of Medicine, St. Louis, Missouri.
Mallory
S
S
Storer
T
T
Ciske
D
D
Hing
A
A
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
D008543:Melanins