Document Detail

Neurotrichosis: hair-shaft abnormalities associated with neurological diseases.
MedLine Citation:
PMID:  7141120     Owner:  NLM     Status:  MEDLINE    
Six children with morphological hair-shaft abnormalities and neurological disease are presented, including two with Pollitt syndrome, one with biotin deficiency, two with Menkes diseases and one with argininosuccinic aciduria. The child with biotin deficiency grew normal hair following oral biotin therapy. Although the hair-shaft abnormalities may be seen with light microscopy (LM), they are best visualised with scanning electron-microscopy (SEM). Pili torti may be mistaken for monilethrix by LM, but SEM shows the true defect. A review of the literature shows that these hair-shaft abnormalities (trichorrhexis nodosa, monilethrix and pili torti) are not specific or pathognomonic, but do indicate a group of neurological disorders, including potentially treatable inborn errors of metabolism. The term 'neurotrichosis' is suggested to classify this group of disorders.
D L Coulter; T F Beals; R J Allen
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  24     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  1982 Oct 
Date Detail:
Created Date:  1983-01-19     Completed Date:  1983-01-19     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  634-44     Citation Subset:  IM    
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / diagnosis
Argininosuccinic Acid / metabolism
Biotin / deficiency
Child, Preschool
Growth Disorders / diagnosis
Hair / abnormalities*
Infant, Newborn
Menkes Kinky Hair Syndrome / diagnosis
Mental Retardation / diagnosis
Microscopy, Electron, Scanning
Nervous System Diseases / diagnosis*
Reg. No./Substance:
2387-71-5/Argininosuccinic Acid; 58-85-5/Biotin

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

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