Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?
Article
in English
| IMSEAR
| ID: sea-52180
ABSTRACT
We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Skin
/
Skin Diseases, Genetic
/
Skin Neoplasms
/
Female
/
Humans
/
Child, Preschool
/
Fibromatosis, Aggressive
/
Genes, Recessive
/
Hyalin
/
Intellectual Disability
Language:
English
Year:
2008
Type:
Article
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