Juvenile hyaline fibromatosis:a case report
10.3760/cma.j.issn.0412-4030.2011.07.020
- VernacularTitle:幼年性透明蛋白纤维瘤病一例
- Author:
Cuixiang DONG
;
Renxia ZHU
;
Huazhang WANG
- Publication Type:Journal Article
- From:
Chinese Journal of Dermatology
2011;44(7):514-516
- CountryChina
- Language:Chinese
-
Abstract:
The clinical manifestation and laboratory features of juvenile hyaline fibromatosis(JHF)are reposed in a 5-year-old girl.Clinical symptoms began at 1 year of age,which was characterized by multiple cutaneous nodules and gingival hyperplasia with normal intelligence.Histopathologic examination of a skin biopsy specimen showed that the epidermis was normal,the nodules were composed of spindle-shaped fibroblasts embedded in homogeneous,non-fibrous,eosinophilic substance,and normal tissue was disrupted.Moreover,the fibroblasts showed transparent cytoplasm arranged in an obscure bundle-like pattern.No cell atypia or necrosis was observed.PCR amplification and sequencing of the capillary morphogenesis gene-2(CMG2)revealed a homozygous splicing mutation(IVS 14+1G→T)in the patient,while both of her parents were hetemzygous for the mutation.JHF is inherited in this family in an autosomal recessive manner.
