Document Detail


Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss.
MedLine Citation:
PMID:  14693484     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Retno Danarti; Arne König; Rudolf Happle
Related Documents :
10990574 - Macrodactyly: report of eight cases and review of the literature.
23091674 - Intraventricular cavernous hemangiomas located at the foramen of monro.
3551974 - Congenital midline porencephaly. prenatal sonographic findings and review of the litera...
18477004 - Neurocutaneous melanosis in association with dandy-walker malformation: case report and...
21087484 - Immunomodulatory dietary polysaccharides: a systematic review of the literature.
17985774 - Self-reported incidence of snake, spider, and scorpion encounters among deployed u.s. m...
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    
Affiliation:
Department of Dermatology, Philipp University, Deutschhausstrasse 9, 35033, Marburg, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Female
Genetic Predisposition to Disease
Humans
Inheritance Patterns / genetics*
Loss of Heterozygosity / genetics*
Male
Mosaicism
Nevus, Pigmented / congenital,  genetics*
Skin Neoplasms / congenital,  genetics*

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


Previous Document:  Human immunodeficiency virus type 1 (HIV-1) derived vectors: safety considerations and controversy o...
Next Document:  Effect of topical tretinoin, chemical peeling and dermabrasion on p53 expression in facial skin.