Document Detail


Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome?
MedLine Citation:
PMID:  8588580     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a sporadic case of hemifacial hamartomatous hyperplasia. The patient is male, and has sebaceous nevus-like skin change, subcutaneous lipomatous mass, cranial bone hyperplasia, and bony change of meninges. His lesion involves the anterior half of the face and cranial base, and, medially, is delimited by the midline. No case has been found identical to this in the literature, particularly with respect to the unusual meningeal lesion. However, without this meningeal lesion the rest of the manifestations are not uncommon in Proteus syndrome. Also, this case may be an indication of somatic mosaicism, lethal in its nonmosaic state. Thus, this case may be thought of as a variant of Proteus syndrome.
Authors:
U Haramoto; S Kobayashi; K Ohmori
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  59     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Nov 
Date Detail:
Created Date:  1996-03-27     Completed Date:  1996-03-27     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  164-7     Citation Subset:  IM    
Affiliation:
Division of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Face / pathology
Humans
Hyperplasia
Magnetic Resonance Imaging
Male
Meninges / pathology
Mosaicism
Phenotype
Proteus Syndrome / diagnosis,  genetics,  pathology*
Skin / pathology

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


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