Vorträge - Dgrh-Kongress

Thema: Der besondere Fall (interaktiv)
10.02
Congenital autoinflammatory or autoimmune syndrome with therapy resistent, chronic
fever and severe ulcerative, pyodermal dermatitis
Dueckers G. 1 , Siepermann K. 1 , Brauer N. 1 , Perez-Becker R. 1 , Sinha K. 2 , Lehmann P. 3 , Wirth S. 2 , Horneff
G. 4 , Niehues T. 5
(1) HELIOS Kliniken, Zentrum für Kinder- und Jugendmedizin, Krefeld, (2) HELIOS Kliniken, Zentrum für
Kinder- und Jugendmedizin, Wuppertal, (3) HELIOS Kliniken, Klinik für Dermatologie, Allergologie und
Umweltmedizin, Wuppertal, (4) Asklepios Kinderklinik St. Augustin GmbH, Zentrum für Allgemeine Pädiatrie
und Neonatologie, St. Augustin, (5) HELIOS Klinikum Krefeld, Zentrum für Kinder- und Jugendmedizin,
Krefeld
Fragestellung
A four year old boy, second child of nonconsanginous Italian parents, suffers from a severe idiopathic,
systemic inflammation since first weeks of life. He has continuous fever, recurrent ulcerative, erythematous
pyoderma, ulcerative mucositis
, mutilating vasculopathy affecting acral regions.
Clinical severity seems to be correlated with exposure to coldness. Frequently, the ulcerative dermatitis
shows bacterial superinfection, e.g. Pseudomonas aeruginosa. Patient's infectious history: relapsing
pneumonias, 1 fulminant sepsis and 1 perianal abscess. As a result of chronic inflammation there is
significant failure to thrive. Histology of skin showed neutrophilic dermatosis. There are normal findings for:
cardial, pulmonary, hepatic or renal and neuro-sensory function. Periodic Fever syndromes have been
excluded by genetic analysis (FMF; CAPS; TRAPS; CINCA; DILRA, NALP12). Lab results: weak positive
ANCA titre, elevated titre for C3d and C1q immune-complex, increased Cytokines in Serum: IL-6, TNFa, and
CD25)(Univ. Ulm), pathological LTT (no cell stimulation with recall antigens; Univ. Duesseldorf),
Hyperimmunoglobulinaemia, anaemia and decreasing numbers of CD3+/CD4+ cells, IgD 237 mg/l. Despite
multimodal therapeutic approaches, including Cortisone (2 - 30 mg/kg/d), Immunglobulins, Colchicine, CSA,
Anakinra (1 - 5 mg/kg/d) no long-term therapeutic effect was achievable. Recently (scince 02/11) the
administration of IL-6 Inhibition seems to be able to suppress the fever, but not the ulcerative dermatitis.
DISCUSSION: Functional analysis of IL-6 pathway might help to further clearify the pathomechanism in our
case and to set up a diagnosis.