SAGE Open Medical Case Reports最新文献

Anaplastic thyroid carcinoma (ATC) is one rare type of thyroid carcinoma without standard systemic treatment for advanced disease. Recent evidence has demonstrated promising efficacy of immune checkpoint inhibitors, particularly those targeting programmed death-1 (PD-1)/programmed death ligand 1 (PD-L1), in a variety of solid tumors. However, there have been no research of immune checkpoint inhibitors plus chemotherapy in ATC. Here, we present the case of a 37-year-old man with metastatic ATC with positive PD-L1 expression, who achieved long-term remission of 34 months after later-line treatment with zimberelimab (a PD-1 inhibitor) and nab-paclitaxel, followed by single-agent zimberelimab maintenance therapy. After three cycles of the combination treatment, the thyroid lesion and the liver metastases shrank dramatically, leading to the best overall response of partial remission. PD-L1 expression may serve as a potential biomarker for tumor response to immune checkpoint inhibitors in ATC. Our review highlights the need for further studies investigating the role of PD-L1 status as biomarker to predict the prognosis of immunotherapy in the treatment of ATC.

A 67-year-old male with positive signals for neuroendocrine and head/neck cancer on a commercially available multicancer detection test underwent an extensive negative diagnostic workup at a local hospital. Referred to our medical center for advanced imaging and endoscopic procedures ultimately led to the diagnosis of an early-stage seminoma with eventual orchiectomy. This case highlights challenges in evaluating positive multicancer detection results, emphasizing the need for a broader understanding of how to interpret these testing results to fully evaluate complex cases, as well as the need for protocolized follow-up approaches to a positive multicancer detection test.

Uterine leiomyoma, also referred to as fibroid or myoma, is a prevalent benign tumor that can present with a range of clinical manifestations. The symptoms, which vary based on the tumor's location, size, and number, include pain, constipation, urinary disturbances, and abnormal menstrual bleeding. Certain types of uterine leiomyomas, such as pedunculated subserosal myomas or large degenerating cystic myomas, may closely mimic ovarian tumors, leading to significant diagnostic and management challenges. In this report, we present the case of a 47-year-old woman who experienced severe dyspnea and abdominal distension. Comprehensive radiological evaluation revealed a massive lesion, with both solid and cystic components, occupying the entire abdominopelvic cavity. Histological analysis confirmed the diagnosis of cellular leiomyoma. This case underscores the importance of considering degenerative cystic myoma in the differential diagnosis of large, cystic intra-abdominal tumors of unknown origin, to avoid misdiagnosis and ensure appropriate management.

Edentulous patients with history of cleft palate and severe maxillary atrophy are challenging patients to rehabilitate through an oral approach. The difficulty of rehabilitating these patients lies in the unusual anatomy they present and the alteration of the vascular supply of local tissues caused by the previous performed surgeries, along with other causes. This report describes the successful dental rehabilitation with zygomatic implants of a patient with complete bilateral cleft palate who was edentulous and had severe maxillary atrophy.

Acrodermatitis continua of Hallopeau is a rare form of pustular psoriasis affecting the acral fingers and toes, characterized by recurrent eruptions of sterile pustules that lead to significant pain and potentially irreversible destruction of the nail apparatus. Symptoms are often refractory to topical and systemic therapies for psoriasis. This case report presents a healthy 23-year-old female with severe acrodermatitis continua of Hallopeau, destructing all 10 fingernails. Treatment with Bimekizumab, a monoclonal antibody that inhibits interleukin-17, led to 50% improvement by 2 months, and complete normal regrowth of all fingernails by 1 year. The medication was tolerated well without any reported side effects. This is the second reported case of successful acrodermatitis continua of Hallopeau treatment with Bimekizumab, highlighting its potential as an effective and safe option for this challenging and recalcitrant condition.

Hepatic epithelioid angiomyolipoma is a rare mesenchymal liver tumor within the perivascular epithelioid cell tumor family, known for its uncertain malignancy and potential for aggressive behavior. Clinical presentation, laboratory findings, and imaging results lack specificity, making pathological examination critical for definitive diagnosis. This case report presents a 61-year-old male patient with a single tumor in the right liver lobe, measuring approximately 101 mm × 99 mm. Initial imaging misdiagnosed the mass as hepatocellular carcinoma. Following multidisciplinary treatment discussions and subsequent tumor resection, histopathology and immunohistochemistry confirmed hepatic epithelioid angiomyolipoma. Accurate diagnosis of hepatic epithelioid angiomyolipoma is challenging, relying on histopathological examination and immunohistochemistry as diagnostic standards. Continuous monitoring of patients with hepatic epithelioid angiomyolipoma over an extended period is deemed essential. This report highlights the positive impact of multidisciplinary treatment in diagnosing and managing hepatic epithelioid angiomyolipoma.

Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or BCL11A-related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a de novo heterozygous pathogenic variant, c.1078dupC (p.Leu360Profs*212), in the BCL11A gene, leading to ID and γ-globin suppression, identified through trio-based whole exome sequencing (trio-WES). All his blood parameters were normal except for an elevated HbF level, which was 19.9% of total hemoglobin. Given the negative family history for ID, epilepsy, and alcohol consumption, de novo inheritance was presumed. Consequently, trio-WES analysis (parents and child) was conducted as it can identify potential new causal variants in the offspring. So far, a comprehensive understanding of the phenotypic spectrum of Dias-Logan syndrome and the impact of genotypic variation on disease severity is still lacking. Therefore, our case report enriches the existing literature on the clinical spectrum and genotype-phenotype correlations of BCL11A-related syndrome and provides some helpful information for diagnosis, management, and genetic counseling.

In India, it is not uncommon for individuals to attempt suicide by ingesting pesticides. Though several publications have reported cases, there are no specific guidelines for managing indoxacarb poisoning. There is no established antidote for indoxacarb poisoning; however, early recognition and treatment of methemoglobinaemia, the primary manifestation, is essential. Early intervention is crucial for a positive outcome. Methemoglobinaemia can be successfully treated with methylene blue, which serves as the first line of management. This case report describes a 24-year-old man presenting with methemoglobinaemia following the ingestion of indoxacarb combined with novaluron and was successfully treated with early administration of methylene blue, leading to rapid recovery despite a methaemoglobin level as high as 75%.

Hidradenitis suppurativa is a chronic inflammatory disease of the skin with a suppurative-cicatricial outcome affecting the infundibular component of the pilo-sebaceous unit. The lesions are typically localized in the intertriginous and apocrine gland-rich areas. Hidradenitis suppurativa mainly affects patients at a young age and is very often refractory to conventional medical treatment. During pregnancy, the management of hidradenitis suppurativa becomes demanding due to the need of safety therapies. Certolizumab pegol is a pegylated monoclonal TNF-α inhibitor that lacks the fragment crystallizable region preventing active placental transfer and could be used in pregnancy and lactation if clinically needed and is label for chronic plaque psoriasis, rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, Crohn's disease. Herein, we describe a case of a 32-year-old pregnant woman with Hurley stage III hidradenitis suppurativa successfully treated with certolizumab pegol.

Papulonodular mucinosis is a rare dermatological condition characterized by mucin deposition in the dermis, leading to the formation of papules and nodules that can occur with, or antedate, autoimmune connective tissue diseases. This case report presents a 67-year-old female with a chronic history of cutaneous mucinosis, which posed significant diagnostic challenges. Despite various treatments and extensive diagnostic workup, her condition evolved, highlighting the difficulties in diagnosing papulonodular mucinosis, especially in the absence of systemic lupus erythematosus and antinuclear antibody positivity. The unusual presentation and diagnostic complexity underscore the need for awareness and thorough investigation in similar cases.