OpenMed/multicare-articles huggingface dataset:
Talimogene Laherparepvec in Advanced Mucosal Melanoma of the Urethra Upon Primary Resistance on Immune Checkpoint Inhibition: A Case Report
Authors: Anne Fröhlich, Friederike Hoffmann, Dennis Niebel, Eva Egger, Guido M Kukuk, Marieta Toma, Judith Sirokay, Thomas Bieber, Jennifer Landsberg
Journal: Front Oncol (2020)
Keywords: immune checkpoint blockade, intralesional treatment, mucosal melanoma, primary resistance, talimogene laherparepvec
MeSH terms: Case Reports

Background: Mucosal melanomas including melanomas of the urogenital tract represent a rare type of melanoma characterized by low mutational burden and poor prognosis. Immune checkpoint inhibition has so far only been assessed in a limited number of mucosal melanoma patients and, in contrast to response in cutaneous melanoma, was associated with disappointing response rates. The oncolytic viral immunotherapy Talimogene laherparepvec (T-VEC) has recently been approved for treatment of locally advanced or unresectable melanoma. T-VEC combines direct oncolytic effects with local and systemic immune-mediated anti-tumor response. Our rationale to use T-VEC in this case was an expected augmentation of immunogenicity by tumor lysis to overcome primary resistance of a mucosal melanoma to immune checkpoint blockade. Objective: To report the first case of an advanced mucosal melanoma of the urethra treated with intralesional application of Talimogene laherparepvec. Case Report: A 78-years old female patient was diagnosed with an advanced mucosal melanoma of the urethra with inguinal lymph node metastases and intravaginal mucosal metastases. Shortly after surgical resection of the tumor mass, intravaginal mucosal metastases, and new nodal metastases in proximity of the left iliac vessels were diagnosed. The patient was treated with the anti-PD1 antibody pembrolizumab and obtained a stable disease lasting for 30 weeks. However, upon checkpoint inhibition the patient developed a loco-regional progressive disease featuring bleeding intravaginal metastases, while nodal metastases remained stable. We stopped treatment with pembrolizumab and administered T-VEC directly into the intravaginal mucosal metastases. After five injections T-VEC yielded a partial response with clinical regression of the injected mucosal metastases. Disease remained stable for 16 weeks under biweekly T-VEC treatment. Thereafter the patient showed disease progression in nodal metastases. T-VEC was discontinued. Immunotherapy with pembrolizumab was restarted but failed to achieve a response. Finally, targeted therapy with imatinib was induced in presence of a druggable c-KIT mutation, leading to a considerable response of all tumor sites that is still ongoing. Conclusion: T-VEC represents an effective and well-tolerated treatment option for patients with loco-regionally advanced mucosal melanoma. In combination with immunotherapy, T-VEC bears the potential of synergistic effects to overcome the specific primary resistance of mucosal melanoma to immune checkpoint blockade.
Pediatric Papillary Renal Cell Carcinoma in a Horseshoe Kidney: A Case Report with Review of the Literature
Authors: Abelardo Loya-Solis, Lucía Alemán-Meza, Luis Carlos Canales-Martínez, Rodolfo Franco-Márquez, Alim Adriana Rincón-Bahena, Karla María Nuñez-Barragán, Raquel Garza-Guajardo, Marco Antonio Ponce-Camacho
Journal: Case Rep Pathol (2015)

Renal cell carcinoma is the most common malignancy of the kidney in adults. In children, however, it only accounts for an estimated 1.8 to 6.3% of all pediatric malignant renal tumors. Papillary renal cell carcinoma is the second most common type of renal cell carcinoma in children. We present the case of a 12-year-old boy with a 2-month history of abdominal pain, unexplained weight loss, and gross hematuria. Computed tomography revealed a horseshoe kidney and a well-defined mass of 4 cm arising from the lower pole of the right kidney. Microscopically the tumor was composed of papillae covered with cells with abundant eosinophilic cytoplasm and high-grade nuclei with prominent nucleoli. Immunohistochemistry was performed; EMA, Vimentin, and AMACR were strongly positive while CK7, CD10, RCC antigen, TFE3, HMB-45, and WT-1 were negative. Currently, 10 months after the surgical procedure, the patient remains clinically and radiologically disease-free.
A Tale of Two Cysts: Steatocystoma Multiplex and Eruptive Vellus Hair Cysts-Two Case Reports and a Review of the Literature
Authors: Rachel J Waldemer-Streyer, Ellen Jacobsen
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Background. Steatocystoma multiplex (SM) and eruptive vellus hair cysts (EVHC) are uncommon benign tumors of the pilosebaceous unit. Both SM and EVHC are characterized by smooth, asymptomatic papules or nodules, most commonly presenting on the chest, limbs, and abdomen. Most cases of SM and EVHC are sporadic, although less common autosomal dominant inherited forms have been reported. Main Observation. In this report we present two cases of cutaneous cysts exhibiting characteristics of either SM or EVHC. Both patients presented with numerous 1-2 mm asymptomatic papules and responded well to surgical expression by incision and drainage (I&D). Conclusion. SM and EVHC are similar in clinical presentation and management. Previously reported "hybrid-type" tumors present strong evidence for a relationship between the two lesions pathologically. Due to potential similarity of EVHC and SM cyst contents, I&D and subsequent microscopic examination cannot definitely differentiate between EVHC, SM, and hybrid cysts.
Poorly differentiated synovial sarcoma of the vagina: a case report and a clinical literature review
Authors: L Minig, G Farnetano, M Peiretti, G Roviglione, V Zanagnolo, G Pelosi, F Landoni
Journal: Ecancermedicalscience (2008)
MeSH terms: Case Reports

Synovial sarcomas (SS) account for 5-10% of soft-tissue sarcomas and typically arise in the para-articular regions of adolescents and young adults. Nonetheless, SS can occasionally occur in other regions of the body. Here, we present a first clinical literature report of a patient with an SS arising from the vaginal wall. A 40-year-old patient who presented a necrotic polypoid lesion, measuring 50 mm and extending from the external urethral meatus to the middle part of the anterior vaginal wall. The biopsy showed a poorly differentiated SS with abundant necrosis and a SYT-SSX1 mutation. A staging CT scan was negative for distant metastases. The patient, prior to the radical surgery, received neoadjuvant chemotherapy (ifosfamide and epirubicin) for three cycles. She underwent post-operative external radiotherapy and brachytherapy (50 Gy) due to close margins (<1 mm) in the pathologic specimen. She relapsed 11 and 16 months later with lung metastases, which, both times, were successfully removed by surgical resection. At 24 months from diagnosis, the patient is alive without further evidence of disease. In summary, in the presence of unfavourable prognostic factors, neoadjuvant chemotherapy could be the primary approach to reduce the tumour size and the risk of distant micro-metastases allowing a less aggressive radical surgery if the tumour is located in a non-extremity site. Hence, a multidisciplinary approach, if not influencing overall survival and disease-free survival, may improve the quality of life. In fact, in our patient we obtained a complete clinical control in the pelvis, avoiding pelvic exenteration with neoadjuvant chemotherapy.
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
Authors: Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Atsuko Arisaka, Setsuko Hasegawa, Shinji Saitoh
Journal: Hum Genome Var (2019)
MeSH terms: Case Reports

A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable epilepsy. Functional analysis found multiple aberrant transcripts, none of which maintained the canonical open reading frame. Computer prediction tools, however, failed to detect all of the aberrant transcripts.
Case report: Clinical features of COVID-19 vaccine-induced exacerbation of psoriasis-A case series and mini review
Authors: Sascha Ständer, Henner Zirpel, Florin Bujoreanu, Alin Laurentiu Tatu, Ralf J Ludwig, Diamant Thaçi
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, exacerbation (symptom flare up), new-onset, psoriasis, vaccination
MeSH terms: Case Reports

Recently, COVID-19 vaccination-induced exacerbation or new-onset of psoriasis have been reported. Underlying immune pathogenesis is unclear and different mechanisms are assumed. Further, clinical- and vaccine-related features and characteristics are partly inconsistent and remain to be elucidated. To add to the understanding of COVID-19 vaccination-triggered psoriasis, we report five cases with exacerbation or new-onset of psoriasis. In our cohort, one patient experienced the new onset of psoriasis, while four had an exacerbation following COVID-19 vaccination. In most patients, exacerbation or new onset occurred after the 2nd or 3rd vaccination. The mean latency from the day of vaccination was 7.2 (1.8) days (SD). The clinical impact with a mean PASI increase following COVID-19 vaccination of 7.2 (5.6) was considered relevant. In most cases, psoriatic lesions almost cleared after applying topical steroids in addition to current treatment, while one patient with psoriatic arthritis required systemic treatment. New onset and exacerbation of psoriasis have also been noted following COVID-19 infections. Hence, the underlying inflammatory response is most likely the culprit agent triggering psoriasis. This underscores that the benefits of COVID-19 vaccination far outweigh the risks, as also in patients with psoriasis.
En Bloc Resection With Reconstruction Using a Customized Megaprosthesis in a Case of Proximal Humerus Giant Cell Tumor: A Case Report
Authors: Mihir H Maniar, Sushil Mankar, Rahul Sakhre
Journal: Cureus (2023)
Keywords: case report, en-bloc resection, giant cell tumor, megaprosthesis, proximal humerus
MeSH terms: Case Reports

A giant cell tumor is a common, benign but locally aggressive bone tumor faced by orthopedic surgeons. The proximal humerus is a rare site of occurrence for this tumor, and the challenges posed while approaching such a case are discussed in this report of a 29-year-old male who presented with pain, swelling, and restricted motion at the left shoulder. Plain radiographs and MRI were suggestive of an aggressive giant cell tumor of the proximal humerus, which was confirmed on histopathological examination. Due to the lesion's extensive soft-tissue involvement, en-bloc resection with reconstruction was planned, but due to the COVID-19 pandemic, surgery was delayed. During the same period, the patient had trivial trauma to the same shoulder, following which the size of the lesion began increasing. The patient was operated on with en-bloc resection and reconstruction with a custom megaprosthesis; following the surgery, there was a complete resolution of pain and improvement in the range of motion. En bloc resection and replacement with a customized megaprosthesis, though technically demanding, offer a safe and cost-effective modality for limb salvage surgery for large giant cell tumors, with good functional outcomes and decreased chances of recurrence.
Follicular Bronchiolitis in a Nigerian Female Child: A Case Report and Review of the Literature
Authors: Nzechukwu Zimudo Ikeri, Godwin O Umerah, Christopher Emeka Ugwu, Olugbenga Olusoji, Adekunle Adeyomoye, Ekanem Ekure, Adetola Olubunmi Daramola
Journal: Case Rep Pediatr (2016)

Small airways diseases are not uncommon in childhood. They account for about 28.4% of hospital admissions for lower respiratory tract infections in South West Nigeria, most of which are due to respiratory syncytial virus (RSV) infection. Noninfectious causes of small airways diseases, on the other hand, are poorly recognized and rarely feature in the differential diagnoses of chronic/recurrent lower respiratory tract disease in our environment. We present a case of follicular bronchiolitis in a 2.5-year-old Nigerian female who had left upper lobectomy on account of recurrent cough and progressive shortness of breath.
Case Report: Management of Malignancy-Exacerbated Pemphigus Vulgaris During COVID-19 Pandemic
Authors: Alberto Corrà, Francesca Cammelli, Lavinia Quintarelli, Giuseppe Barbato, Ornella Le Rose, Adele Salemme, Giovanni Di Zenzo, Francesco Coratti, Alice Verdelli, Cristina Aimo, Elena Biancamaria Mariotti, Beatrice Bianchi, Fabio Cianchi, Marzia Caproni
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, ivor lewis esophagectomy, esophageal cancer, immunoblot, intravenous immunoglobulin, paraneoplastic pemphigus, pemphigus vulgaris, rituximab
MeSH terms: Case Reports

Pemphigus vulgaris is an intraepidermal autoimmune mucocutaneous blistering disease whose etiopathogenesis includes various trigger factors, i.e., drugs and malignancies. We present a case of malignancy-exacerbated pemphigus vulgaris which required a careful diagnostic process in order to rule out paraneoplastic pemphigus, along with the challenges posed by the need of treating both cutaneous and oncologic diseases. Possible post-operative complications post-poned the start of first-line immunosuppressive treatment of pemphigus. Moreover, the infective risks had to be minimized during the peak of the COVID-19 pandemic in Italy. Intravenous immunoglobulins were chosen as "bridge" therapy before the tumor surgical excision, followed by rituximab in post-operative phase.
Hysterectomy Sparing Management of Uterine Necrosis following Uterine Artery Embolization for Postpartum Hemorrhage
Authors: Myriam Chlela, Josette Dawkins, Gregory Lewis
Journal: Case Rep Obstet Gynecol (2023)
MeSH terms: Case Reports

Background:
Postpartum hemorrhage (PPH) is one of the leading causes of maternal morbidity and mortality. Uterine artery embolization (UAE) is an effective procedural intervention for controlling PPH. Uterine necrosis (UN) is a rare complication of UAE and its management usually results in hysterectomy. We highlight a case of UAE complicated by UN managed conservatively without hysterectomy.
Case:
This is the case of a 30-year-old patient who had a cesarean section delivery and subsequently developed PPH due to uterine atony. The estimated blood loss (EBL) was 2500 ml; despite the use of uterotonic medications and trial of intrauterine balloon tamponade. She successfully underwent a UAE with no immediate complications. The remainder of her postnatal course was uncomplicated, and she was discharged on postoperative day 4. On postoperative day 28, the patient presented with fever, vaginal discharge, and abdominal pain. An abdomino-pelvic computed tomography scan revealed areas of necrosis within the uterus secondary to recent UAE. After minimal clinical improvement, the patient underwent a dilation and curettage with ultrasound guidance. The patient improved clinically and was discharged home to complete a 14-day course of antibiotics.
Conclusion:
UAE is an important minimally invasive approach to the management of PPH. UN following UAE can present a clinical challenge to physicians, with the underlying pathophysiology being use of small embolizing particles during UAE and lack of arterial collaterals to embolized areas. A total of 19 cases of UN post-UAE have been described of which most of these cases were managed with a hysterectomy. In this case, an alternative treatment plan was successfully implemented via dilation and curettage under ultrasound guidance for removal of organized necrotic tissue. This was sufficient to improve the patient's symptoms and clinical outcome and saved the patient from the morbidity and mortality risks associated with a hysterectomy.
Glandular fever and pulmonary artery thrombosis in a paraplegic patient, who had undergone splenectomy for splenic trauma sustained along with spinal cord injury: misdiagnosed initially as urine infection and later as lymphoma when CT scan revealed enlarged lymph nodes: a case report
Authors: Subramanian Vaidyanathan, Bakul M Soni, Peter L Hughes, David O'Brien, Tun Oo, Wunna Aung
Journal: Cases J (2009)

Background:
A 36-year-old male sustained fracture of first lumbar vertebra, splenic tear and paraplegia in a motorcycle accident in 2001; splenectomy was performed.
Case presentation:
In 2008, he presented with temperature and feeling rough. With a diagnosis of urine infection, he was prescribed ciprofloxacin, followed by trimethoprim, amoxicillin, and gentamicin, as temperature did not subside. White cell count was 21.2 x 109/L; lymphocytes were 13.05 x 109/L (1.00 - 4.00). Therefore, computerised tomography (CT) of chest and abdomen was performed. Thrombus was present in pulmonary arteries bilaterally involving the lobar and segmental branches. Enlarged lymph nodes were seen in axillae, chest, abdomen and inguinal regions. Radiological diagnosis was lymphoma. Cell marker showed an excess of large granular lymphocytes and activated lymphocytes. The Glandular Fever Slide Test was positive. Subsequently, Paul Bunnell test was also positive. Epstein Barr virus serology was consistent with recent Epstein Barr virus infection. Antibiotic was omitted; enoxaparin was prescribed for pulmonary artery thrombosis.
Conclusion:
Learning points from this case: (1) Although routine administration of antibiotic to a spinal cord injury patient with pyrexia may be acceptable in outpatient setting, other possibilities such as infection by multi-drug resistant organism, viral infection, venous or, arterial thrombosis should be considered if a patient does not respond promptly to antibacterial therapy. (2) When full blood count showed lymphocytosis (comprising > 50% of white blood cells) with atypical morphology, lymphocyte surface markers, Paul Bunnell test, and Epstein Barr virus serology should be performed. These tests would have led to a diagnosis of infectious mononucleosis, and abdominal imaging studies could have been avoided. (3) Lymphoid hyperplasia is the hallmark of infectious mononucleosis; therefore, we should have suspected glandular fever rather than lymphoma when CT scan revealed enlarged lymph nodes in abdomen, mediastinum, axillae and inguinal regions in this patient, who had lymphocytosis with atypical morphology. (4) A soft tissue mass, situated inferior to left hemidiaphragm in this asplenic patient, was misinterpreted as lymph nodes; review of CT led to the correct diagnosis of splenunculus. (5) Acute infection with Epstein Barr virus may lead to transient induction of anti-phospholipid antibodies, which can cause vascular thrombosis. (6) This case illustrates the value of reviewing test results and discussion with senior doctors, as these measures help to recognize medical errors and improve patient care.
Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient
Authors: Anlei Liu, Lingli Zhou, Huadong Zhu, Yi Li, Jing Yang
Journal: Biomed Res Int (2022)
MeSH terms: Coproporphyria, Hereditary / genetics, Lupus Erythematosus, Systemic / diagnosis, Lupus Erythematosus, Systemic / genetics, Case Reports, Adult, Amino Acid Transport System y+L / genetics, Coproporphyrinogen Oxidase / genetics, Exome Sequencing, Female, Humans, Mutation / genetics, Pedigree, Amino Acid Transport System y+L, SLC7A7 protein, human, Coproporphyrinogen Oxidase

Background:
Hereditary coproporphyria (HCP) is a rare autosomal dominant disorder caused by a partial deficiency of coproporphyrinogen III oxidase (CPOX), and systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic predisposition. SLC7A7 (solute carrier family 7 member 7) may be associated with monogenic lupus disease; however, only 2 cases of concomitant HCP and SLE have been reported.
Methods:
We report a 30-year-old woman with a six-year history of SLE presenting with abdominal pain, vomiting, dysuria, tachycardia, and hyponatremia. Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of her pedigree to detect the genetic background. The Gene Expression Omnibus (GEO) database was used to search the related gene expression profiles. Differentially expressed genes (DEGs) were identified using GEO2R.
Result:
A novel heterozygous splicing mutation of CPOX (NM_000097): c.700+2 T > C (intron 2) was detected by WES in the proband, and it was considered likely pathogenic (PSV1+PM2). Sanger sequencing verified the heterozygous mutation of CPOX in the proband, although it was not detected in her father. WES also identified 62 other gene variants, especially two heterozygous variants in SLC7A7 (NM_001126106): c.250G > A (p. V84I) and c.625+1G > A (splicing). DEGs were detected from GSE51997, and the expression of CPOX was downregulated in SLE patients compared with normal controls (adj. P = 0.0071, logFC = -1.0975).
Conclusion:
This study presents the first reported case of SLE coexisting with HCP in China; moreover, a novel splicing mutation of CPOX, i.e., c.700+2 T > C (intron 2), and two heterozygous mutations of SLC7A7 were reported. The simultaneous mutations of CPOX and SLC7A7 may explain the etiopathogenetic connections of HCP and SLE.
Prolonged Toxic Encephalopathy following Accidental 4-Aminopyridine Overdose
Authors: Maria Ballesta Méndez, Vincent van Pesch, Arnaud Capron, Philippe Hantson
Journal: Case Rep Neurol Med (2014)

Background. 4-Aminopyridine (4-AP) is a drug that is used to improve motor fatigue in patients suffering from multiple sclerosis (MS). Medication error can occur, as commercial preparation may not be available in some countries. Case Presentation. A 58-year-old woman with progressive MS presented with status epilepticus. She was receiving 4-AP for more than 3 years. The symptoms started soon after the ingestion of a single pill that was supposed to contain 10 mg 4-AP, but further investigations revealed that each pill had been inadvertently prepared with an 100 mg 4-AP concentration. The patient was admitted to the intensive care unit (ICU) for appropriate management (orotracheal intubation, sedation, and antiepileptic drugs). The first electroencephalogram (EEG) showed abundant irregular spike-waves on the left central regions. Neurological condition gradually improved from day 7, while the EEG did not reveal any more electrical seizures but was still consistent with toxic encephalopathy. The patient stayed in the ICU until day 13. At discharge from the rehabilitation ward (2.5 months later), the patient had not yet recovered her previous cognitive and functional condition. Conclusion. A single 100 mg 4-AP accidental overdose may cause serious immediate complications, with a slow and incomplete neurological recovery.