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INTRODUCTION AND IMPORTANCE: Hand metastases are notably rare, comprising around 0.1% of all metastatic diseases, mainly originating from lung cancer, which is responsible for 30-40% of such cases. This report highlights a rare occurrence of distal phalangeal metastasis in a patient with Lynch syndrome, underscoring the diagnostic challenges associated with hand metastases. CASE PRESENTATION: A 70-year-old male diagnosed with Lynch syndrome 35 years ago, following colon adenocarcinoma, presented with severe inflammatory lesions on his right index finger. Patient had previous liver segmentectomies to remove metastatic lesions and had multiple cutaneous squamous cell carcinomas in various regions. Recent diagnostics, including a chest CT, identified a thoracic mass suggestive of squamous cell lung carcinoma. Histopathological analysis confirmed the metastasis of lung cancer to the index finger, necessitating a transphalangeal amputation. CLINICAL DISCUSSION: Hand metastases are extremely infrequent, often mimicking other conditions and requiring a high index of suspicion for accurate diagnosis. This case reinforces the lung as a frequent origin of hand metastases and the significance of elevated EGFR expression in facilitating metastatic spread. CONCLUSION: The rarity of hand metastasis in patients with genetic predispositions like Lynch syndrome calls for heightened vigilance and an integrated management approach. It highlights the critical role of histopathology in diagnosis and the need to consider genetic factors in treatment planning. Further research is encouraged to understand the mechanisms enabling certain cancers to metastasize to the hand and the role of genetic conditions in these processes.
RESUMO
RATIONALE: Osteoid osteoma is a relatively common benign bone-forming lesion that often occurs in young adults with a predilection for the lower limbs and spine. It is characterized by the formation of osteoid tissue, a precursor to bone, and can cause pain and restricted mobility in affected areas. Osteoid osteoma of the hand and fingers is rare, thus representing a diagnostic challenge. A written informed consent was provided from the patient's father for the publication and sharing all images and clinical data concerning the patient. PATIENT CONCERNS: We are reporting a case of an 11-year-old girl who presented with persistent pain and swelling in her left index finger, as well as limited mobility, over the course of 1 year. Nonsteroidal anti-inflammatory drugs eased the pain, but it resurfaced once the medication was discontinued. DIAGNOSES: A series of investigations, showed a lytic lesion at the second proximal phalangeal neck, with features indicative of osteoid osteoma. INTERVENTIONS: Excision with bone grafting was performed as definitive therapy with pathological confirmation of the osteoid osteoma diagnosis. Nevertheless, the patient returned 2 years later with a recurrence of her previous symptoms, and further tests suggested a recurrence of osteoid osteoma. To address the recurrence, a modified open thermoablation technique was used. Thermoablation is a minimally invasive procedure that uses heat to destroy the tumor cells, and it has been shown to be effective in treating osteoid osteoma. The modified open approach involves making a small incision to access the tumor and delivering heat directly through a previously CT-guided inserted Kirschner wire to the affected area. OUTCOMES: The patient reported no pain at 1 month and 1 year after the surgery, with no radiological signs of recurrence, indicating complete excision of the lesion. LESSONS: Overall, this case highlights the challenges of diagnosing and treating osteoid osteoma in the hands and fingers. Further research is needed to better understand the underlying causes, potential risk factors, and optimal treatment for osteoid osteoma recurrence.
