Problems with the problem list: challenges of transparency in an era of patient curation.

In recent years, the OpenNotes movement and other changes in healthcare have driven institutions to make medical records increasingly transparent. As patients have begun to question and request changes to their Problem Lists, clinicians have come to face the ever more frequent challenge of discerning which changes to make and which to refuse. Now clinicians and patients together choose the list of problems that represent the patient's current state of health and illness. As the physician's role slides closer to consultant and the medical paternalism of the twentieth century falls further into the background of our technology-infused present, who holds the power of delineating a patient's clinical identity? This paper examines the ethical and practical dimensions of this question and proposes a research agenda that aims to answer it. Such explorations are essential to ensuring that the physician remains relevant to patient's notions of health, illness, intervention, and healing.

Tumor necrosis factor receptor associated periodic fever syndrome with photographic evidence of various skin disease and unusual phenotypes: case report and literature review.

OBJECTIVES: To report a case of tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) with unusual clinical phenotypes and a systematic review. METHODS: The relevant English literature of TRAPS was searched using the keywords TRAPS, autoinflammatory disease, and gene mutation. Original and review articles were reviewed and the clinical scenarios were exemplified with a case report. RESULTS: A 58-year-old Jewish woman with Eastern European Ashkenazic background presented with photographic evidence of various skin disease, including previously unreported vesicles and alopecia, as well as other systemic manifestations. The complaints of urinary foreign bodies prompted a discovery of ureteral strictures with atypia perhaps from autoinflammation. A R92Q gene mutation of TNFRSFA1 was detected. The clinical manifestations of this disease are protean and its pathogenesis is complex, involving the interaction of wild-type and mutated gene products, innate immune system, and proinflammatory cytokines. Glucocorticoid and anticytokine therapy is generally efficacious but some cases remain refractory to the current treatment. CONCLUSIONS: TRAPS is a systemic autoinflammatory disease with variable clinical phenotypes associated with gene mutations. Recognition of the unusual phenotypes may enhance early accurate diagnosis.