Juvenile hyaline fibromatosis (a case report)

被引:0
|
作者
Giovannini, G [1 ]
Fedeli, F [1 ]
Giardina, A [1 ]
Lambertini, A [1 ]
Molinari, PP [1 ]
Ambrosioni, G [1 ]
机构
[1] OSPED MAGGIORE CA PIZZARDI,SERV ANAT PATOL,BOLOGNA,ITALY
关键词
juvenile hyaline fibromatosis; mesenchymal dysplasia; gingival hypertrophy; flexion contractures;
D O I
暂无
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We report the case of a child of unrelated parents with Juvenile Hyaline Fibromatosis (JHF) a rare disease inherited as a recessive autosomal trait, consisting of skin lesions, gingival hypertrophy, flexion contractures of the joints and osteolytic defects. In our patient a pseudo-Hurler facial dysmorphism and a hypertrichosis, not so typical findings, were also present. To our knowledge, our case is the first report of JHF in Italy.
引用
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页码:272 / 276
页数:5
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