Li Fraumeni syndrome presenting atypically as Immune thrombocytopenia and early aging phenotype-A case report

<p><strong>Background:</strong> Germline mutations in the TP53 gene are primarily associated with Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder. While the predominant manifestations are various malignancies, there is limited information regarding non-malignant clinical features, particularly affecting the skin and musculoskeletal systems, in TP53 mutation carriers. We report a rare case of LFS presenting with immune thrombocytopenia (ITP) and changes of early aging and discuss the possible underlying pathophysiological mechanisms for these.<br /><strong>Case presentation</strong>: A 16-year-old female presented with complaints of spontaneous ecchymotic patches over both upper limbs, lower limbs, and chest along with menorrhagia. Comprehensive evaluation with bone marrow examination confirmed diagnosis of ITP which was treated with steroids, intravenous immunoglobulin, and thrombopoietin receptor agonists, and the patient responded completely with normalization of platelet count. Given the positive family history of thrombocytopenia in the sister and early malignancy in the maternal family, a whole exome sequencing was done which showed a heterozygous pathogenic variant in the TP53 gene confirming the background of LFS.<br /><strong>Conclusion:</strong> A case of LFS with a positive family history presenting as primary ITP successfully managed with ITP-like treatment is a rare immunological complication and has not been reported in the literature to date.</p>