Jack R Gallagher, David Lapidus, Kylee Heap and Susan Carroll
Background: Pachyonychia Congenita (PC) is a chronically debilitating and lifelong genetic disease that typically causes constant, disabling pain. PC appears to be rare, but its prevalence is unsubstantiated by large-scale epidemiologic studies. We conducted the first national prevalence study of a cohort of PC patients, those managed annually by US dermatologists.
Methods: Potential study participants were randomly selected from a national panel of patient-care dermatologists and invited to participate in a brief study of a patient condition that would be disclosed at the study website.
Results: Of the 423 dermatologists contacted, 400 participated, of whom 53% reported managing at least one PC patient during the past 12 months, an annual prevalence of 6.4/10,000 patients (extrapolated to 8,900 to 9,800 nationally), according to the study model.
Conclusions: Study findings indicate PC is likely to be far more prevalent than previous estimates in the literature and that the frequency and level of disability caused by pain-related symptoms may be under-recognized by the treating dermatologist. Additional research is needed to determine the extent to which PC diagnosis has been or could be genetically confirmed.
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