Document Detail

A solitary calvarial lytic lesion with typical histopathological findings of juvenile hyaline fibromatosis.
MedLine Citation:
PMID:  16238086     Owner:  NLM     Status:  MEDLINE    
Juvenile hyaline fibromatosis (JHF) is a rare systemic disease characterized by papulonodular skin lesions, gingival hyperplasia, joint contractures, and osteolytic lesions on long bones and the skull. It has recently been reported that the disease is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG-2). To date, fewer than 60 cases have been published in the literature. Partial disease expression is common, but no cases featuring a solitary calvarial lesion have been reported. The authors discuss this 4-year-old boy with a solitary calvarial osteolytic lesion whose histopathological examination exhibited findings characteristic of JHF. Mutational analysis, however, revealed that there were no mutations in the CMG-2 gene. Two years after surgery, he was free of any complaints as well as gingival hyperplasia, joint contractures, and new skull or skin lesions. This patient's condition may represent clinical or genetic heterogeneity associated with JHF. Whether solitary lesions mimicking JHF can arise from somatic mutation of the CMG-2 gene remains to be proven.
N Serdar Bas; Feyza Karagöz Güzey; Erhan Emel; Kivanc Cefle; Hürriyet Turgut; Ibrahim Alatas; Baris Sel; Sukru Palanduz; Sukru Ozturk; Serap Cetinkaya Bas
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of neurosurgery     Volume:  103     ISSN:  0022-3085     ISO Abbreviation:  J. Neurosurg.     Publication Date:  2005 Sep 
Date Detail:
Created Date:  2005-10-21     Completed Date:  2005-11-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253357     Medline TA:  J Neurosurg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  285-8     Citation Subset:  AIM; IM    
Department of Neurosurgery, SSK Vakif Gureba Training Hospital, Turkey.
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MeSH Terms
Child, Preschool
DNA Mutational Analysis
Fibroma / complications*,  pathology*
Gingival Hypertrophy / etiology
Joint Diseases / etiology*
Osteolysis / etiology
Skull / pathology*

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