Deigendesch, NikolausHirsiger, Julia RBigler, Marc BGhosh, AdhidebHarder, DorotheeJauch, AnnaïseEspinosa, Joaquin MRecher, MikeNavarini, AlexanderDaikeler, ThomasBerger, Christoph T
Summary
It is well reported that those with Down syndrome experience heightened secretion of interferon, leading to a continuous state of inflammation and associated complications. In this case study, researchers present the case of a DS patient who developed soft tissue calcifications at the age of 50 years. Soft-tissue calcification occurs in active connective tissue disorders, but rarely in DS. After reviewing case files, examining tissue samples, and running molecular analyses, researchers believe enhanced IFN and a mutation in the protein SAMD9 may cause extensive soft- tissue calcification in this patient. Review of literature found only one other similar case in a child with DS.
Conditions
Calcinosis, Connective Tissue Diseases