Skeletal dysplasia

Gene: ANTXR2

Green List (high evidence)

Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis.

Well established gene-disease association, multiple families reported.

Created: 5 Dec 2021, 9:57 p.m. | Last Modified: 5 Dec 2021, 9:57 p.m.

Panel Version: 0.10079

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229

Publications

• 12973667
• 14508707