Rare case of hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome is a rare, progressive and fatal autosomal recessive disorder characterised by multiple subcutaneous skin nodules, osteopenia, joint contractures, failure to thrive, diarrhoea and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. The disease is often underdiagnosed since infants affected with the disease pass away early prior to establishing a final diagnosis. We describe an infant presenting with failure to thrive, progressive severe joint contractures and skin changes. Clinical exome sequencing revealed homozygous novel missense variation in exon 3 of the anthrax toxin receptor 2 gene confirming the diagnosis.