Rebecca L. McCarthy, Jaimie Oldham, Elsa Barbosa, Catriona Sinclair, Malvina Cunningham, Edel A. O’Toole
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Severe atypical juvenile pityriasis rubra pilaris diagnosed in adulthood with a dramatic improvement with ustekinumab
Pityriasis rubra pilaris (PRP) is a rare skin disease which manifests as a psoriasiform dermatosis and palmoplantar keratoderma and has significant clinical‐histopathological overlap with psoriasis. Recently, several case reports have demonstrated successful treatment of PRP with anti‐IL7A and anti‐IL12/anti‐IL23 monoclonal antibodies. We report a case of atypical juvenile PRP definitively diagnosed during adulthood with presence of CARD14 mutation. This case demonstrates a dramatic improvement with ustekinumab and highlights the role of genetic testing in chronic disease of diagnostic uncertainty.
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