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A diagnosis that will go down in history

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A well described case in the Christmas tradition is that of patient R, reported to have been afflicted with a very shiny nose. We believe his presentation was consistent with one of the cutaneous forms of sarcoidosis: lupus pernio.

A well described case in the Christmas tradition is that of patient R, reported to have been afflicted with a very shiny nose. The lesion was described as having a lustrous, glowing appearance and initially exerting a significant burden on quality of life — the patient’s peers engaged in name-calling and excluded him from social games. It would seem that the case proved a challenge diagnostically, with the disease managed expectantly. Fortuitously, it availed itself to a particularly coveted job prospect which in time eventuated in acceptance by his peers and, notably, this transpired with glee. The case has remained a diagnostic dilemma through the generations. It has been proposed that the cutaneous lesion might be attributable to variations in nasal microcirculation noted in specific genetic populations.1 However, the uniqueness of patient R’s lesion is what has made him a legend and, accordingly, a diagnosis of variations in nasal microcirculation seems unlikely. Rather, a pathological aetiology is more in keeping with his clinical picture. We believe patient R was afflicted with one of the cutaneous forms of sarcoidosis: lupus pernio.

The clinical presentation…

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