关键词: 常染色体病

Abstract:

The clinical manifestation and laboratory features of juvenile hyaline fibromatosis （JHF） are reported 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 fibro-blasts 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（IVS14 + 1G→T） in the patient, while both of her parents were heterozygous for the mutation. JHF is inherited in this family in an autosomal recessive manner.

Key words: Autosomal recessive