Document Detail


The phakomatoses as paracrine growth disorders (paracinopathies).
MedLine Citation:
PMID:  2107047     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A microcomputer database management system retrieved all 170 probands with phakomatoses evaluated through the genetic clinics at the University of South Florida between January 2, 1982 and December 31, 1987. Neurofibromatosis (NF) was the diagnosis of 118 of them; 42 had other phakomatoses and 10 had transitional phenotypes difficult to classify. The analysis of the hamartomas of all probands indicated disorganized differentiation and overgrowth of cell species characteristic for the involved tissue and location. Abundance of extracellular fibrillary components was also evident in most hamartomas. Adequate blood supply was a conditio sine qua non. This was seen in monogenic, sporadic, transitional and combined phakomatoses alike and implied a common pathogenesis. The paracrine growth factors and their regulation emerged as the most plausible common denominator for the pathogenesis. A unitary pathogenetic hypothesis is proposed that the phakomatoses represent paracrine growth regulation disorders (paracrinopathies). Conditions such as fibromatoses, lipomatoses, lipodystrophies, hemihyper/hypotrophies, including Russell-Silver and Beckwith-Wiedemann syndromes may be proven to be paracrinopathies as well.
Authors:
B G Kousseff
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  37     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1990 Feb 
Date Detail:
Created Date:  1990-04-20     Completed Date:  1990-04-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  97-105     Citation Subset:  IM    
Affiliation:
University of South Florida.
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MeSH Terms
Descriptor/Qualifier:
Dysplastic Nevus Syndrome / genetics*
Growth Substances / physiology
Hamartoma / genetics*
Humans
Melanosis / genetics*
Mutation
Neoplastic Syndromes, Hereditary / genetics*
Neurofibromatosis 1 / genetics*
Skin Neoplasms / genetics*
Syndrome
Tuberous Sclerosis / genetics*
Chemical
Reg. No./Substance:
0/Growth Substances

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


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