Juvenile dermatomyositis shows characteristic skin lesions. However, this does not rule out co‐occurring other autoimmune diseases, which may be more prominent regarding skin manifestations. Co‐occurring other skin autoimmune diseases should not be regarded as a preclusion for dermatomyositis. Here, we present an impressing case of juvenile dermatomyositis with co‐occurring psoriasis.
ZusammenfassungEin 64-jähriger Patient entwickelte 1 Monat nach Therapieeinleitung mit Sitagliptin, einem Dipeptidylpeptidase-4(DPP‑4)-Inhibitor, und Metformin eine Alopecia universalis. Die Therapie des Diabetes wurde auf das Sitagliptin eines anderen Herstellers und Dapagliflozin umgestellt. Auf unser Anraten wurde Sitagliptin abgesetzt und eine Monotherapie mit Dapagliflozin fortgeführt. Nach 6 Wochen war eine erneute Therapie mit Sitagliptin bei unzureichend eingestelltem Diabetes notwendig. Die Alopezie persistierte. Aufgrund des immunologischen Interaktionspotenzials vermuten wir eine Assoziation zwischen DPP-4-Inhibition und der Alopezie. Der kurze therapiefreie Zeitraum scheint zu gering, um ein erneutes Haarwachstum zu beobachten. DPP‑4 kann sowohl eine Inhibition als auch Aktivierung des Immunsystems bewirken.
This article presents the case of a patient with newly developed skin erosions and ulcerations following an exanthematous drug eruption due to sultamicillin therapy. The skin lesions were treated topically with clobetasol and prednicarbate and orally with methylprednisolone. A skin smear revealed massive growth of Escherichia coli bacteria. Blood cultures were negative. The cause for developing ecthyma gangrenosum in our patient were iatrogenic immunosuppression and transient bacteremia.
Pathogenic variants in TP53 have been classically thought to cause Li-Fraumeni syndrome (LFS), a cancer predisposition with high risks for various childhood- and adult-onset malignancies. However, increased genetic testing has lately revealed, that pathogenic variant carriers exhibit a broader range of phenotypes and that penetrance may be dependent both on variant type and modifiers. Using next generation sequencing and short tandem repeat analysis, we identified germline pathogenic variants in TP53 and RAD51C located in cis on chromosome 17 in a 43-year-old male, who has developed a rare sebaceous gland carcinoma (SGC) but so far no tumors of the LFS spectrum. This course mirrors a Trp53-Rad51c-double-mutant cis mouse-model, which similarly develops SGC, while the characteristic Trp53-associated tumor spectrum occurs with significantly lower frequency. Therefore, we propose that co-occurent pathogenic variants in RAD51C and TP53 may predispose to SGC, reminiscent of Muir-Torre syndrome. Further, this report supports the diversity of clinical presentations associated with germline TP53 alterations, and thus, the proposed expansion of LFS to heritable TP53-related cancer syndrome.
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