gms | German Medical Science

Background: IgG4-related disease (IgG4-RD) is a rare inflammatory disease, which presents in various clinical manifestations, mimicking infections, tumours and autoimmune conditions. Since incidence is low and symptoms usually are primarily treated under wrong presumptions, diagnosis is often delayed many years. Here we report a case of a 47-year-old female patient with manifestation in spine, lung and skin. In 2015 she first presented herself with multiple abscesses in the skin as well as small psoriatic-like lesions. The following year she suffered from an increasing pain the thoracic spine, radiating into the left arm and neck, followed by paresthesia and missing reflexes in the left arm. Physiotherapy and NSAR brought no relief, a low dose of steroids seemed to only improve the skin lesions.

Methods: While initial MRI-scan of the spine had shown no significant pathologies, 5 months later a suspected metastasis with destruction of C6 was visible. The patient underwent diagnostic neurosurgical exploration and the histology showed lymphoplasmacellular inflammation with an increased number of IgG4+ lymphocytes but no histopathological signs of malignancy. With serum markers of IgG4-related disease normal a follow-up-examination of the biopsy of a lung tumor that was performed in 1999 was initiated. At the time it was considered an inflammatory pseudotumor and successfully treated with steroids. The histology again showed increased numbers of IgG4+ lymphocytes but like the spine tumor it didn’t fulfill the criteria for diagnosis of IgG4-RD (no storiform pattern of fibrosis, no obliterative phlebitis).

Results: Nevertheless, with IgG4+ cells in both biopsies, increased serum IgE and responsiveness to steroids we were confident of the diagnosis of IgG4-RD. The patient was treated with prednisolone 40mg/day and remission inducing therapy with rituximab was performed. During the following year skin lesions disappeared and no more abscesses or further tumors occurred 4 months after treatment with rituximab.

Conclusion: This is the first reported case of IgG4-RD with cervical spine involvement. Hence, it adds knowledge to the spectrum of potential organ involvement und underpins the difficulty of diagnosing this rare disease. Negative serum IgG4 may be deceiving, and the absence of the characteristic histopathological appearance also cannot be relied on with absolute certainty.