Document Detail


Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome.
MedLine Citation:
PMID:  2420118     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two cases of epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders were described. It was proved that the reported cases represented a new syndrome, which had previously not been published. The syndrome was named "Syndroma Kallin" after the surname of the two patients. Two genetic theories were suggested: an autosomal recessive genetic trait or a gonadal mosaicism with an early dominant gene mutation.
Authors:
P Gamborg Nielsen; E Sjölund
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta dermato-venereologica     Volume:  65     ISSN:  0001-5555     ISO Abbreviation:  Acta Derm. Venereol.     Publication Date:  1985  
Date Detail:
Created Date:  1986-03-31     Completed Date:  1986-03-31     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370310     Medline TA:  Acta Derm Venereol     Country:  SWEDEN    
Other Details:
Languages:  eng     Pagination:  526-30     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Alopecia / genetics*
Anodontia / genetics*
Child
Epidermolysis Bullosa / genetics*
Female
Humans
Nail Diseases / genetics*
Pedigree
Sweden
Syndrome

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


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