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Background: Retro-rectal cystic hamartoma, also known as a tailgut cyst, is a rare type of space-occupying lesion. It is a cystic hamartoma that predominantly forms in the retrorectal region and may serve as a potential etiology for anal neoplasia.

Case Presentation: A 58-year-old female patient was initially treated for squamous cell carcinoma of the anal canal, which was surgically removed on May 20, 2023, followed by radiotherapy. She also had a known tailgut cyst with a fistula connecting it to the perianal skin at the 6 o’clock position in the lithotomy view. The cyst had been asymptomatic until then. As a prophylactic measure to prevent potential malignant transformation, the decision was made to excise the tailgut cyst. The operation was performed laparoscopically and included perianal mobilization of the fistula. During follow-up, the patient developed perianal pain. A CT scan revealed a fluid collection at the site of the excised tailgut cyst. The collection was surgically drained and identified as a seroma without any signs of infection. The patient was discharged after seven days and experienced no further long-term complications.

Conclusion: Retro-rectal cystic hamartomas are rare and often asymptomatic. When symptomatic, they may present with lower abdominal pain, back pain, obstipation, urinary retention, or complications such as anal abscesses and fistulas. Research to date remains inconclusive regarding the incidence of malignant transformation.

Background: 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 and changes of early aging and discuss the possible underlying pathophysiological mechanisms for these.

Case presentation: 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 immune thrombocytopenia (ITP) which was treated with steroids, intravenous immunoglobulin (IVIG), and thrombopoietin receptor agonists (TPO-RAs), 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 a background of LFS.

Conclusion: A case of Li-Fraumeni syndrome 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.