Journal of Medical Case Reports最新文献

{"title":"Diagnosis and management of an unusual presentation of schwannoma in nasopharynx: a case report.","authors":"Srilatha Kavarthapu, Kaushik Saha, Vasudha Singh, Venkata Krishna Sundeep Nalamolu, Manish Singh","doi":"10.1186/s13256-025-05132-2","DOIUrl":"10.1186/s13256-025-05132-2","url":null,"abstract":"<p><strong>Background: </strong>Schwann cells are responsible for producing the myelin sheath that surrounds the axons in the peripheral nervous system. Benign tumors that originate from Schwann cells are called schwannomas or neurilemmomas. These tumors typically present as slow-growing, solitary, encapsulated masses, often associated with nerve trunks. Schwannomas are relatively rare, with 25-45% of cases occurring in the head and neck region.</p><p><strong>Case presentation: </strong>This report aims to describe the presentations, work-up, and treatment of a 38-year-old Indian female patient with head and neck schwannoma in an atypical location. It was an incidental swelling noted during functional endoscopic sinus surgery. The tumor was found to be originating from the junction of the posterior and lateral pharyngeal wall near the lower edge of the torus tubarius on the left side. Complete surgical excision of the tumor was done in this case with no reported recurrence at 6 months' follow-up. The final diagnosis was made on the basis of histopathology and immunohistochemistry findings.</p><p><strong>Conclusion: </strong>Histopathology should serve as the foundation for a definitive diagnosis. Tumor removal can be carried out using minimally invasive surgery through the endoscopic approach, resulting in fewer complications and a lowered risk of morbidity.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"289"},"PeriodicalIF":0.9,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of congenital ectopia lentis: a case report and review of the literature.","authors":"Xuebi Cai, Wei Chen, Jiezheng Xue, Junliang Wang, Zhisha Bai, Wei Qiang, Sifang Zhang, Heding Zhou","doi":"10.1186/s13256-025-05266-3","DOIUrl":"10.1186/s13256-025-05266-3","url":null,"abstract":"<p><strong>Background: </strong>Congenital ectopia lentis (CEL) is a rare ophthalmic disorder characterized by partial or complete dislocation of the lens, leading to significant visual impairment. The etiology is complex, often involving genetic factors and systemic diseases. Early diagnosis and treatment are crucial to prevent complications and preserve the patient's vision.</p><p><strong>Case presentation: </strong>This report presents a case of a 7-year-and-6-month-old Chinese male patient with congenital ectopia lentis. The patient had a history of high myopia from an early age and poor corrected vision. Diagnostic evaluations included slit-lamp biomicroscopy, biometry, retinal OCT, corneal thickness measurement, corneal topography, and ultrasound examinations. Additionally, whole exome sequencing (WES) was performed to identify gene mutations potentially linked to the clinical manifestations. Imaging studies revealed bilateral lens dislocation accompanied by corneal astigmatism and vitreous opacities. Genetic testing detected a known pathogenic missense mutation (c.3209G > A) in the FBN1 gene, associated with Marfan syndrome. A variant of uncertain significance (VUS) in the COL2A1 gene, potentially related to Stickler syndrome, was also identified.</p><p><strong>Conclusion: </strong>The diagnosis of congenital ectopia lentis can be confirmed through a combination of imaging studies and genetic testing, particularly when associated with systemic diseases. Imaging techniques help determine the extent of lens dislocation and related complications, while genetic testing provides critical insights into the underlying genetic causes. Early diagnosis and intervention are essential to reduce the risk of complications and improve patients' quality of life.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"288"},"PeriodicalIF":0.9,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intravascular ultrasound evaluation of pulmonary hypertension in high-altitude patients with ventricular septal defect: a case report.","authors":"Yuanguo Chen, Jing Li, Qi Qiao, Yan Zhou, Haibo Zhang","doi":"10.1186/s13256-025-05346-4","DOIUrl":"10.1186/s13256-025-05346-4","url":null,"abstract":"<p><strong>Background: </strong>High-altitude pulmonary hypertension is a rare but serious condition, particularly in individuals with congenital heart disease. Patent ductus arteriosus is a common congenital defect that may progress to irreversible pulmonary hypertension if untreated. However, operability assessment remains challenging in borderline cases. This case highlights the novel application of intravascular ultrasound to directly visualize pulmonary vascular remodeling in a patient with patent ductus arteriosus and high-altitude pulmonary hypertension, offering critical structural insight beyond conventional hemodynamic indices.</p><p><strong>Case presentation: </strong>A 68-year-old Tibetan woman, a lifelong resident of the Garzê Tibetan Autonomous Prefecture in Sichuan, China (3500 m altitude), presented with a 2-year history of worsening dyspnea, leg swelling, and abdominal distension. Clinical evaluation revealed signs of right heart failure and a systolic heart murmur. Transthoracic echocardiography confirmed a large patent ductus arteriosus with bidirectional shunting and severe pulmonary hypertension. Chest computed tomography and angiography demonstrated dilated pulmonary arteries and pruning of distal branches. Right heart catheterization showed suprasystemic pulmonary artery pressure (130/55 mmHg), elevated pulmonary vascular resistance (15 Wood units), and a pathological pulmonary/systemic vascular resistance ratio of 0.92. Given the borderline operability, intravascular ultrasound was performed via femoral access and revealed severe medial hypertrophy (approximately 70% of wall thickness) and features suggestive of intimal dissection, consistent with irreversible vascular remodeling. The structural abnormalities visualized by intravascular ultrasound confirmed the contraindication to patent ductus arteriosus closure. Medical therapy with macitentan and tadalafil was initiated, alongside recommendations for altitude relocation. Follow-up at 3 months showed symptomatic improvement, although invasive reassessment was not yet performed.</p><p><strong>Conclusion: </strong>This case demonstrates the first reported use of intravascular ultrasound to assess pulmonary artery structure in a patient with patent ductus arteriosus-associated pulmonary hypertension at extreme altitude. Intravascular ultrasound provided unique real-time insight into vascular remodeling that critically influenced clinical decision-making. It may serve as a valuable adjunct to standard diagnostics in high-risk or borderline operability cases, particularly in settings where histological evaluation is unfeasible. Broader use of intravascular ultrasound in congenital heart disease with pulmonary hypertension may enhance individualized risk assessment and optimize therapeutic strategies.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"284"},"PeriodicalIF":0.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Struma ovarii-diagnostic and treatment strategy: a case report.","authors":"Mohammed Alnaggar, Mueataz A Mahyoub, Nabil Alshargabi, Li Gong","doi":"10.1186/s13256-025-05152-y","DOIUrl":"10.1186/s13256-025-05152-y","url":null,"abstract":"<p><strong>Introduction: </strong>Struma ovarii is an uncommon ovarian tumor primarily composed of thyroid tissue, accounting for approximately 1-3% of ovarian teratomas.</p><p><strong>Case presentation: </strong>We present the case of a 68-year-old Chinese female patient presenting with recurrent urethral outlet tumescence and an adnexal mass, whose diagnosis was established through ultrasonography, pelvic computed tomography, and magnetic resonance imaging. Subsequently, the patient underwent laparoscopic left adnexectomy, and histopathological examination confirmed the presence of struma ovarii in the left ovary.</p><p><strong>Conclusion: </strong>Struma ovarii poses unique diagnostic and management challenges owing to its rarity. A multidisciplinary approach incorporating clinical, imaging, and histological evaluations is essential for accurate diagnosis and optimal treatment outcomes. Surgical excision remains the cornerstone of treatment, typically resulting in a favorable prognosis when performed promptly and appropriately.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"285"},"PeriodicalIF":0.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bladder endometriosis in a patient with undirected manifestations: a case report.","authors":"Kenana Tawashi, Ahmad Abdul Hakim Alhamid, Hadi Alabdullah, Malek Belal, Mohammed Nazem Almassri, Mohamad Yasin Lutfi","doi":"10.1186/s13256-025-05337-5","DOIUrl":"10.1186/s13256-025-05337-5","url":null,"abstract":"<p><strong>Background: </strong>Endometriosis is defined as the presence of functional glands and stroma of the uterus outside its cavity. It affects 10-20% of women of reproductive age. It can form in different parts of the body; the involvement of the urinary tract is rare (1% of all cases).</p><p><strong>Case presentation: </strong>We report here a case of a 37-year-old Syrian woman who presented to the clinic with urinary hesitancy, dysuria, suprapubic pain, and intermittent hematuria for a year. The patient experienced dysmenorrhea, irregular menstruation, dyspareunia, and pelvic pain for 3 years until now. According to the patient, these symptoms did not follow a specific pattern related to menstruation. The laboratory findings included hematuria and an international normalized ratio of 2.5. The radiological investigations revealed a 3 cm mass on the posterior bladder wall extending toward the uterus. The surgical procedure was conducted through a lower abdominal approach employing a Pfannenstiel incision. Upon gaining access to the pelvic cavity, the bladder was carefully exposed and opened. Examination revealed a solid mass located on the posterior bladder wall, which was meticulously dissected and excised to ensure the preservation of adjacent anatomical structures. The bladder was subsequently repaired without complications. The postoperative period was uneventful, and the patient was discharged without any immediate complications. Histopathological analysis of the excised lesion confirmed a diagnosis of benign bladder endometriosis. The patient underwent regular postoperative surveillance for 2 years, during which no evidence of recurrence was observed.</p><p><strong>Conclusion: </strong>The case highlights the importance of considering bladder endometriosis in the differential diagnosis of patients presenting with unexplained urinary symptoms and pelvic pain. Early recognition and surgical management can lead to favorable outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"286"},"PeriodicalIF":0.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Difficult removal of an endobronchial foreign body: pen cap aspiration: a case report.","authors":"Hujun Wu, Xiaofen Tao, Liqin Ke, Lei Wu","doi":"10.1186/s13256-025-05334-8","DOIUrl":"10.1186/s13256-025-05334-8","url":null,"abstract":"<p><strong>Background: </strong>Foreign body aspiration represents an important cause of morbidity and mortality during childhood. Foreign body aspiration is often missed clinically, especially in some children whose symptoms and signs are not obvious. A neglected aspirated foreign body can last for years, leading to recurrent pneumonia in mild cases and the potential to be life-threatening in severe cases. We herein report a case of difficult foreign body removal in the left upper lobe to help us better understand the risk of foreign body aspiration.</p><p><strong>Case presentation: </strong>The patient was a 12-year-old boy of East Asian ethnicity who complained of a history of magnetic bead aspiration 17 days earlier. He was admitted to hospital due to fever 5 days previously with a mild cough and chest pain. Chest computed tomography confirmed a bronchial foreign body. Due to the special location of the foreign body impaction and prolonged retention, it was very difficult to remove. We successfully removed the peripheral granulation tissue with the help of a combination of various bronchoscopic interventional techniques and finally removed the foreign body. However, to our surprise, the foreign body was not a magnetic bead but a pen cap.</p><p><strong>Conclusion: </strong>Foreign body aspiration is common in childhood and requires early recognition and treatment to avoid complications that can be very serious or even fatal. Bronchoscopy is the gold standard for the diagnosis of foreign body aspiration. For difficult foreign body removal, bronchoscopic intervention technology can be useful.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"283"},"PeriodicalIF":0.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12177992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Time reduction with a mini power saw blade in first carpometacarpal Ensemble arthroplasty: a case report.","authors":"Jay Garvey, Scott Gargasz","doi":"10.1186/s13256-025-05351-7","DOIUrl":"10.1186/s13256-025-05351-7","url":null,"abstract":"<p><strong>Background: </strong>Shaping the trapezium and metacarpal base during first carpometacarpal (CMC) Ensemble arthroplasty traditionally relies on manual rasping. This is time-consuming and poses the risk of iatrogenic nerve injury due to repeated rasping near the dorsal and volar branches of the dorsal radial sensory nerve. This case report presents a novel modification to the surgical technique by integrating a mini power saw to streamline joint space preparation.</p><p><strong>Case presentation: </strong>A 56-year-old Caucasian female patient presented with advanced first carpometacarpal osteoarthritis and chronic pain. She underwent multiple rounds of corticosteroid injections into the first carpometacarpal joint that provided only short-term relief. She expressed her desire for long-term relief and underwent Ensemble arthroplasty at the first carpometacarpal with this modification to the technique. Intraoperative fluoroscopy confirmed optimal implant positioning. The patient began occupational therapy 2 weeks post-surgery, attending sessions two to three times per week.</p><p><strong>Conclusion: </strong>This innovative approach reduced operative time by 20 minutes compared to traditional rasping, with postoperative outcomes comparable to those of the standard technique. This report highlights a potential advancement in surgical efficiency and safety.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"281"},"PeriodicalIF":0.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated pulmonary valve endocarditis in a 7-year-old Nigerian girl: a case report.","authors":"Ayobami Oyetunji Alabi, Bukola Adetutu Sayomi, Olanike Taye Oladibu, Mayowa Mary Adetoye, Nicholas Aderinto, Adeseye Abiodun Akintunde","doi":"10.1186/s13256-025-05241-y","DOIUrl":"10.1186/s13256-025-05241-y","url":null,"abstract":"<p><strong>Background: </strong>Right-sided infective endocarditis is a rare clinical entity, with isolated pulmonary valve infective endocarditis being extremely uncommon. Infective endocarditis carries a high mortality rate and significant complications, making early identification and prompt management crucial in improving outcomes. This case highlights an unusual presentation of right-sided infective endocarditis isolated to the pulmonic valve in a pediatric patient with no apparent preexisting heart disease.</p><p><strong>Case presentation: </strong>A 7-year-old girl of Yoruba ethnicity presented with septicemic illness, congestive heart failure, and no evidence of congenital cardiac lesion, underlying valvular disease, or identifiable predisposing factors. She had underweight malnutrition, cachexia, and severe respiratory distress. Echocardiography, which was delayed due to resource limitations, ultimately revealed isolated myxomatous vegetation on the pulmonary valve, dilated right cardiac chambers, and pulmonary hypertension. Blood cultures grew Pseudomonas aeruginosa. The patient was managed with antimicrobial agents, an anticardiac failure regimen, antiplatelets, and supportive therapy. Management was complicated by financial constraints, which delayed optimal intervention.</p><p><strong>Conclusion: </strong>Although isolated pulmonary valve infective endocarditis is rare in the pediatric population, particularly in the absence of identifiable heart disease, a high index of suspicion is essential. Early diagnosis via echocardiography and prompt, adequate treatment are crucial for favorable outcomes. Awareness of potential diagnostic delays and financial barriers can aid in optimizing timely intervention and improving prognosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"280"},"PeriodicalIF":0.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful management of a calcified coronary nodule with intravenous lithotripsy: a case report and review of literature.","authors":"Anwar Hussain, Pouya Ebrahimi, Sohail Q Khan, Farhan Shahid","doi":"10.1186/s13256-025-05341-9","DOIUrl":"10.1186/s13256-025-05341-9","url":null,"abstract":"<p><strong>Background: </strong>Calcified nodules within coronary stents are increasingly recognized as contributors to in-stent restenosis and stent thrombosis, which pose significant cardiovascular risks. Advanced imaging techniques, such as optical coherence tomography, have been crucial in detecting calcified nodules, which are more prevalent in patients undergoing hemodialysis and those with pre-existing calcified lesions.</p><p><strong>Case presentation: </strong>A 67-year-old British man with a history of diabetes, hypertension, and heart failure presented with chest pain, dyspnea, and diaphoresis, leading to a diagnosis of non-ST-elevation myocardial infarction based on elevated troponin and B-type natriuretic peptide levels. Imaging revealed significant coronary artery disease, including a patent left anterior descending stent with focal stenosis due to a calcified nodule, chronic total occlusion of the left circumflex artery, and right coronary artery occlusion. The patient was treated with intravenous lithotripsy and balloon angioplasty, along with medical therapy, including dual antiplatelet therapy, statins, beta-blockers, angiotensin-converting enzyme inhibitors, and diuretics. The discussion highlights the challenges of managing calcified coronary lesions, comparing rotational atherectomy, intravenous lithotripsy, and conventional stenting techniques. While rotational atherectomy is effective for superficial plaque modification, intravenous lithotripsy offers deeper calcium modification with fewer complications, though both modalities require careful patient selection for optimal outcomes.</p><p><strong>Conclusion: </strong>Calcified nodules within coronary stents are a significant cause of in-stent restenosis and thrombosis, leading to adverse cardiovascular events. Advanced imaging techniques such as intravascular ultrasound and optical coherence tomography are crucial for early detection and accurate diagnosis. Effective management of calcified nodule-related lesions remains challenging, with rotational atherectomy and intravenous lithotripsy emerging as viable adjunctive therapies for optimal stent expansion. This case highlights the successful use of rotational atherectomy in treating a patient with severe in-stent calcification presenting with non-ST-elevation myocardial infarction. A tailored approach combining advanced imaging, lesion preparation, and optimal stent deployment is essential for improving outcomes in patients with complex calcified coronary disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"282"},"PeriodicalIF":0.9,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12178041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of rapidly growing conjunctival squamous cell carcinoma in a 3-year-old child with xeroderma pigmentosum: a case report.","authors":"Birhanu Kassie Reta, Micheale Hailu Weldegebriel, Hindeya Hailu Hagos, Nebiat Zerabiruk Embaye, Welday Tadesse Fisseha, Kibra Sebuh Kidanemariam","doi":"10.1186/s13256-025-05320-0","DOIUrl":"10.1186/s13256-025-05320-0","url":null,"abstract":"<p><strong>Background: </strong>Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by hypersensitivity to ultraviolet light owing to mutation of nucleotide excision repair genes. Cutaneous and ocular malignancies commonly occur in the first decade of life in patients with xeroderma pigmentosum. Squamous cell carcinoma is the most common ocular malignancy in xeroderma pigmentosum. This case report aims to highlight that ocular malignancy can occur as early as the first few years of age in xeroderma pigmentosum, and the malignancies can progress rapidly unless early intervention is made.</p><p><strong>Presentation of case: </strong>We present a case of a 3-year-old male child from Tigray, Ethiopia, who is born to consanguineous parents and presented with right eye swelling and photophobia of 1-month duration. On physical examination, there was a fungating, ulcerated mass over the right palpebral conjunctiva and dry lentigos, scaly skin with poikiloderma over his face, neck, hands, and leg. A clinical diagnosis of xeroderma pigmentosum was made on the basis of history and cutaneous manifestations, and histopathologic examination of the conjunctival mass confirmed squamous cell carcinoma with orbital soft tissue extension.</p><p><strong>Conclusion: </strong>Ocular malignancies are disabling manifestations of xeroderma pigmentosum that usually occur in the first decade of life. Patients with xeroderma pigmentosum should be strongly advised on lifetime protection against ultraviolet light exposure, vitamin D supplementation, and frequent dermatologic and ophthalmologic examination to detect and treat early-stage malignancies. Delayed diagnosis of ocular malignancies may result in more aggressive management such as enucleation and exenteration.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"278"},"PeriodicalIF":0.9,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12172206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144317128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}