Document Detail

Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss.
MedLine Citation:
PMID:  14693484     Owner:  NLM     Status:  MEDLINE    
Large congenital melanocytic nevi have so far always been considered to occur sporadically, and until now little has been written about a possible role of heredity as a cause of this disorder. We reviewed familial cases of large congenital melanocytic nevi as reported in the literature and found 14 case reports with a family history of congenital nevi. We propose the concept of paradominant inheritance as a possible genetic explanation. The concept would imply that heterozygous individuals are phenotypically normal which is why the mutation would be transmitted unperceived through many generations. The trait would become manifest only when loss of heterozygosity occurred at an early developmental stage, giving rise to a patchy area of homozygous or hemizygous cells. This would explain why the lesions of large congenital melanocytic nevi are always arranged in a mosaic pattern; why they occur virtually always sporadically; and why the exceptional cases of a familial aggregation of this trait do not show any consistent Mendelian pattern.
Retno Danarti; Arne König; Rudolf Happle
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of dermatology : EJD     Volume:  13     ISSN:  1167-1122     ISO Abbreviation:  Eur J Dermatol     Publication Date:    2003 Sep-Oct
Date Detail:
Created Date:  2003-12-24     Completed Date:  2004-03-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9206420     Medline TA:  Eur J Dermatol     Country:  France    
Other Details:
Languages:  eng     Pagination:  430-2     Citation Subset:  IM    
Department of Dermatology, Philipp University, Deutschhausstrasse 9, 35033, Marburg, Germany.
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MeSH Terms
Genetic Predisposition to Disease
Inheritance Patterns / genetics*
Loss of Heterozygosity / genetics*
Nevus, Pigmented / congenital,  genetics*
Skin Neoplasms / congenital,  genetics*

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