In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.

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.

[Alopecia areata universalis under treatment with sitagliptin : Possible immunological effect of dipeptidyl peptidase-4 inhibitors?].

A 64-year old man developed alopecia universalis after one month of treatment with metformin and sitagliptin, a dipeptidyl peptidase‑4 (DPP-4) inhibitor. Diabetes treatment was changed to another genericum of sitagliptin and dapagliflozin. Following our recommendation, sitagliptin was interrupted and monotherapy with dapagliflozin was continued.

Erythematous scaling lesions of the face, dorsal fingers, elbows, and knees together with symmetrical muscle weakness in a child.

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.