Document Detail


Familial hypomelanosis of Ito.
MedLine Citation:
PMID:  1756756     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
P Montagna; G Procaccianti; G Galli; L Ripamonti; A Patrizi; A Baruzzi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European neurology     Volume:  31     ISSN:  0014-3022     ISO Abbreviation:  Eur. Neurol.     Publication Date:  1991  
Date Detail:
Created Date:  1992-02-06     Completed Date:  1992-02-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  345-7     Citation Subset:  IM    
Affiliation:
Institute of Neurology, University of Bologna, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Atrophy
Biopsy
Cerebellar Ataxia / diagnosis,  genetics,  pathology
Cerebellum / pathology
Chromosome Aberrations / genetics
Chromosome Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders / diagnosis,  genetics,  pathology
Genes, Dominant / genetics
Humans
Male
Melanins / metabolism
Melanocytes / pathology
Nervous System Diseases / diagnosis,  genetics*,  pathology
Neurologic Examination
Pigmentation Disorders / diagnosis,  genetics*,  pathology
Skin / pathology
Chemical
Reg. No./Substance:
0/Melanins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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