Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis.

ABSTRACT:

Background/objective

Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues. Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO. We report a case of massive TC mechanistically associated with phosphatonin resistance associated with heterozygous alterations in the sterile alfa motif domain-containing protein-9 gene (SAMD9), alfa 2-Heremans-Schmid glycoprotein gene (AHSG), FSHD region gene 2-family member-C gene (FRG2C), and fibroblast growth factor receptor-4 gene (FGFR4).

Case report

A middle-aged Malay woman with systemic sclerosis presented with painful hard lumps of her axillae, lower limb

SUBMITTER: Leow MKS 

PROVIDER: S-EPMC10509374 | biostudies-literature | 2023 Sep-Oct

REPOSITORIES: biostudies-literature