The treatment of neutrophilic panniculitis can be challenging. We report a patient with a difficult-to-treat neutrophilic panniculitis who had a spectacular response to a short treatment course with the IL-1 antagonist anakinra. A 61-year-woman had a 12-year history of a serious febrile neutrophilic panniculitis and a personal history of steroid- induced pancreatitis and life-threatening methemoglobinemia under antimalarials and dapsone. When she developed a new flare, she was treated successfully with a 15-day course of subcutaneously administered injections of 100 mg anakinra. This observation is the first report attesting the efficiency of anakinra in neutrophilic panniculitis. It expands the potential indications of IL-1 inhibition in the field of the neutrophilic dermatoses, or more generally, in neutrophil-mediated systemic diseases. It underscores the potential pathogenic involvement of IL-1 in those diseases, a hallmark of autoinflammation, and supports their nosologic classification among diseases involving primarily the innate immune system.

No abstract

The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the RECQL4 gene. This gene is known to be causative of a spectrum including Baller-Gerold syndrome, RAPADILINO syndrome and RTS. New and rare features such as oral leukoplakia and very prominent hyperkeratotic verrucous papules on both soles are shown. This patient has to date no cancer history despite bearing a truncating mutation at the age of 21 years, which is also unusual.

No abstract