Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi-system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities. This case demonstrates an unusual pattern of patchy mucosal fibrosis throughout the gastrointestinal tract, alongside duodenal and rectal strictures, with only mild inflammation. While serial endoscopic dilatations and systemic corticosteroids resulted in symptomatic benefit, trial of a Janus kinase-1 inhibitor (upadacitinib) did not prevent the development of a subsequent rectal stricture. As the pathogenesis of SS remains undefined and treatment modalities are experimental, the observed fibrostenotic complications may point towards new underlying disease mechanisms.