Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review

Objectives Dyskeratosis congenita (DC) is a rare inherited disease characterized by the triad of reticulate hyperpigmentation, nail dystrophy and oral leukoplakia. DC patients are considered vulnerable to external pressure, such as immunochemotherapy. There are very few cases reporting severe therapy-induced toxicities in patients with DC. Methods A 27-year-old woman was admitted to our hospital with a 4-month history of pancytopenia and a 7-day history of dyspnea with coughing. She was diagnosed with non-Hodgkin's lymphoma 5 months ago. She received immunochemotherapy due to non-Hodgkin's lymphoma but experienced recurrent fever, oral ulcer, pancytopenia, dyspnea and other symptoms during immunochemotherapy. On admission, she experienced an aggravation of respiratory symptoms, recurrent infections and acute heart failure. Results Laboratory examination confirmed pancytopenia, and chest computed tomography showed interstitial lung disease (ILD). Genetic analysis results confirmed the presence of DC and a TINF2 gene mutation. With continuous supportive and anti-infection treatment, her condition finally stabilized. She was discharged from the hospital after nearly 2 months. Discussion We reviewed similar cases and found common features that could be useful. However, the reported cases are very limited. More cases and studies are needed. Conclusion These cases indicate that DC patients seem more vulnerable to therapy toxicities; thus, physicians should be careful when treating these patients with chemotherapy drugs or radiation therapy. Reduced-intensity therapy may be considered.

Automated summary

This article reports a case of a 27-year-old woman who had pancytopenia for 4 months and dyspnea with coughing for 7 days. She was diagnosed with non-Hodgkin's lymphoma 5 months ago. During immunochemotherapy, she experienced recurrent fever, oral ulcer, pancytopenia, dyspnea and other symptoms. On admission, her respiratory symptoms worsened, she had recurrent infections and acute heart failure. Laboratory examination confirmed pancytopenia, and chest CT revealed interstitial lung disease (ILD). Genetic analysis confirmed the presence of DC and a TINF2 gene mutation. With continuous supportive and anti-infection treatment, her condition finally stabilized. She was discharged after nearly 2 months.