Familial hypomelanosis of Ito.
Two siblings presented the typical skin changes of hypomelanosis of Ito (HI) associated with mental and cerebellar signs. Their mother showed only the skin changes of HI but no neurological disturbances. HI is a hereditary disorder, in which familiarity may go unnoticed because of the different expressions of neural and cutaneous features.
Montagna
P
P
Institute of Neurology, University of Bologna, Italy.
Procaccianti
G
G
Galli
G
G
Ripamonti
L
L
Patrizi
A
A
Baruzzi
A
A
D000328:Adult; D001284:Atrophy; D001706:Biopsy; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008543:Melanins / Q000378:metabolism; D008544:Melanocytes / Q000473:pathology; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D019965:Neurocognitive Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009460:Neurologic Examination; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
D008543:Melanins