OpenMed/multicare-articles huggingface dataset:
Incontinentia pigmenti and bipolar aphthosis: an unusual combination
Authors: G Márquez Balbás, M A González-Enseñat, A Vicente, L Creus-Vila, J Antón, P Umbert-Millet
Journal: ISRN Dermatol (2011)
MeSH terms: Case Reports

Incontinentia pigmenti (IP) is an uncommon X-linked dominant multisystem disorder, lethal in the majority of affected males in utero and variably expressed in females. The cutaneous manifestations are diagnostic and classically occur in four stages: vesicular, verrucous, hyperpigmented, and atrophic. The skin lesions are typically spread along the lines of Blaschko, and they are usually present at birth. It may be variably accompanied by dental, ocular, neurologic, bones and joints, and development anomalies. The genes IP has been mapped to Xq28. Mutations in the NEMO/IKKγ gene, located at Xq28, have been found to cause expression of the disease. Behçets disease is a multisystem disorder consisting of recurrent oral aphtae, genital ulcers, pustular skin eruption, and uveitis. Occasionally there are other articular, neurological, intestinal, or vascular abnormalities. This disease is rare in children. Here, we report a case of a 16-year-old female with the rare combination of incontinentia pigmenti and an aphthosis bipolar, and we discuss the probably relationship between these two diseases.
Endolymphatic sac tumor: case report and literature review
Authors: Hongliang Ge, Hongyao Wang, Jiawei Cai, Xinting Zhang, Wenzhong Mei, Xiyue Wu, Dezhi Kang
Journal: Chin Neurosurg J (2020)
Keywords: elst, endolymphatic sac tumor, posterior fossae, temporal bone, von hippel-lindau disease
MeSH terms: Case Reports

Background:
Endolymphatic sac tumor (ELST) is one of neuroectodermal tumor which arising from endolymphatic sac and duct. It is actually quite rare, with less than 200 cases reported. Although ELST presents benign appearance in histopathology, it can present aggressive destructive behavior in clinical. The cornerstone of treatment for ELST is complete surgical excision. However, it is almost impossible to completely resect the advanced stage tumor. There is still controversy about other treatments, such as radiotherapy and gamma knife surgery.
Case presentation:
A 47-year-old man was admitted in The First Affiliated Hospital of Fujian Medical University with a 7-year history of progressive hearing loss and near 6-month repeated attacks of headache. Preoperative CT revealed a massive intracranial lesion and associated hydrocephalus. MR scanning demonstrated a 7.2 cm × 4.6 cm × 4.2 cm bulky mass located in left-sided posterior cranial fossa and temporo-occipital region which showed hyperintensity on T1-weighted images and mixed signal intensity on T2-weighted images. There was no neither clinical manifestation nor family history of Von Hippel-Lindau syndrome (VHL).Due to the mass that was large and invading the bone of skull base, it was difficult to extirpate surgically, so the ventriculoperitoneal shunt combined with local biopsy was performed. The postoperative pathology and immunohistochemical findings confirmed the lesion was an endolymphatic sac tumor. After operation, the patient regularly received radiotherapy.
Conclusion:
The widely accepted management of ELST is complete surgical resection. However, it is difficult for surgeons to achieve radical resection with late-stage ELST. Currently, there is much dispute about the role of radiotherapy for the management of ELST in academic circles. In this case where the mass cannot be surgical removed, radiotherapy has the curative effect for ELST in terms of disease control and quality of life.
Type-1 Grade 2 Multi-Focal Gastric Neuroendocrine Tumors Secondary to Chronic Autoimmune Gastritis
Authors: Ziqi Yu, Aiyao Wang, Chong Hu, Tao Yu, Jianyong Chen
Journal: Front Med (Lausanne) (2022)
Keywords: ecl cell, g cell hyperplasia, atrophic gastritis, chronic autoimmune gastritis, gastric neuroendocrine tumors, type-1 gastric carcinoid
MeSH terms: Case Reports

Background:
Chronic autoimmune gastritis (CAG) refers to chronic atrophic gastritis due to autoimmunity. Loss of gastric glands in CAG results in hypergastrinemia and achlorhydria leading to Vitamin B12 deficiency and hyperplasia of G cells and enterochromaffin-like (ECL) cells. Vitamin B12 deficiency could cause pernicious anemia and subacute combined degeneration, while G cells and ECL cells hyperplasia might develop gastric neuroendocrine tumor (G-NET).
Case presentation:
A 35-year-old Chinese female presented with multi-focal type-1 Grade 2 (G2) NETs with a 14-year history of pernicious anemia and subacute combined degeneration.
Conclusion:
Here, we report a rare case of a Chinese patient presenting G-NET combined with pernicious anemia and subacute combined degeneration, which are secondary to chronic autoimmune gastritis. This case also illustrates the importance of routine gastroscopy in patients with Vitamin B12 deficiency.
Yogi Detox Tea: A Potential Cause of Acute Liver Failure
Authors: Keerthana Kesavarapu, Mitchell Kang, Jaewook James Shin, Kenneth Rothstein
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

We present a case of acute fulminant liver failure from a liver detoxification tea. We present a 60-year-old female with weakness, lethargy, scleral icterus, jaundice, and worsening mental status. She drank herbal tea three times a day for 14 days prior to symptom development. Liver tests were elevated. Remaining laboratory tests and imaging were negative for other etiologies. An ultrasound-guided liver biopsy showed submassive necrosis. A literature search on the ingredients shows six ingredients as having hepatotoxic effects and remaining ingredients as having very sparse hepatoprotective data. Healthcare professionals should discuss herbal medication and tea use and report adverse effects.
Combined mirror visual and auditory feedback therapy for upper limb phantom pain: a case report
Authors: Delia G Wilcher, Ivan Chernev, Kun Yan
Journal: J Med Case Rep (2011)

Introduction:
Phantom limb sensation and phantom limb pain is a very common issue after amputations. In recent years there has been accumulating data implicating 'mirror visual feedback' or 'mirror therapy' as helpful in the treatment of phantom limb sensation and phantom limb pain.
Case presentation:
We present the case of a 24-year-old Caucasian man, a left upper limb amputee, treated with mirror visual feedback combined with auditory feedback with improved pain relief.
Conclusion:
This case may suggest that auditory feedback might enhance the effectiveness of mirror visual feedback and serve as a valuable addition to the complex multi-sensory processing of body perception in patients who are amputees.
Primary Pulmonary Epithelioid Hemangioendothelioma: A Rare Cause of PET-Negative Pulmonary Nodules
Authors: Riccardo Cazzuffi, Nunzio Calia, Franco Ravenna, Claudio Pasquini, Sara Saturni, Giorgio Narciso Cavallesco, Francesco Quarantotto, Rosa Rinaldi, Annaluisa Cogo, Gaetano Caramori, Alberto Papi
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

We report here a case of primary pulmonary epithelioid hemangioendothelioma diagnosed in a 67-year-old Caucasian man, presenting with exertion dyspnoea, dry cough, and multiple bilateral pulmonary nodules revealed by computed tomography. At the 18F-fluorodeoxyglucose positron emission tomography, these nodules were negative. The histopathological diagnosis was made on a pulmonary wedge resection (performed during video-thoracoscopic surgery).
Management of an Extensive Vascular Lesion on the Lip by Photocoagulation with High-Intensity Diode Laser
Authors: Luciane H Azevedo, Dante Migliari
Journal: Open Dent J (2017)
Keywords: congenital lip enlargement, diode laser, photocoagulation, vascular malformation
MeSH terms: Case Reports

Objective:
Extensive vascular malformations (VM) pose difficulties for an effective management.
Introduction:
This article describes a very satisfactory result, both functional and aesthetic, following a management by the technique of photocoagulation using diode laser in an extensive VM lesion involving the lower lip and left buccal mucosa in a 25 year old male.
Case report:
The patient reported that the lesion had been present since birth. The whole treatment, carried out under local anesthesia, spread over 6 months since as many as 4 sessions of laser, with a 1.5-month interval in each, were required. The resting period between sessions played an important part in treatment by allowing a time for the recovery of the patient and the shrinking of the lesion.
Conclusion:
The patient had no complications during the laser sessions, and his postoperative period was uneventful. No recurrence has been seen after a 2.5-year follow-up.
Pulmonary alveolar proteinosis induced by hydrofluoric acid exposure during fire extinguisher testing
Authors: YuJin Kim, JiYoung Shin, ShinMyung Kang, SunYoung Kyung, Jeong-Woong Park, SangPyo Lee, SangMin Lee, Sung Hwan Jeong
Journal: J Occup Med Toxicol (2015)
Keywords: hydrofluoric acid (hfa), hydrofluorocarbons (hf), pulmonary alveolar proteinosis (pap)
MeSH terms: Case Reports

Introduction:
Automatic fire suppression systems use hydrofluorocarbons (HF) to extinguish fires chemically. At high temperatures, HF can release hydrofluoric acid (HFA), a toxic, potentially lethal gas.
Case report:
A 52-year-old male visited our Pulmonary Division with dyspnea of 8-months duration. He had been working at a facility that manufactured fire extinguishers. Bronchoscopy was performed and a transbronchial lung biopsy was taken from the right lower lobe. After the patient was diagnosed with pulmonary alveolar proteinosis (PAP), whole-lung lavage was performed. In this case, fire extinguisher gas induced pulmonary alveolar proteinosis. This material should be used with care and investigated further.
Discussion:
HFA is corrosive and penetrates organic materials, including body tissues. Depending on the mode of exposure, skin ulceration, pulmonary injury, or even systemic shock can result. This report describes PAP that developed after chronic, repeated exposure to fire extinguisher spray. Hydrofluoric acid can induce pulmonary disorders such as PAP.
Acceptance of Anxiety through Art Therapy: A Case Report Exploring How Anthroposophic Art Therapy Addresses Emotion Regulation and Executive Functioning
Authors: A C Abbing, E W Baars, O Van Haastrecht, A S Ponstein
Journal: Case Rep Psychiatry (2019)
MeSH terms: Case Reports

Anxiety is a major problem for many individuals, causing impairment in daily life. Art therapy is often deployed and although positive results are communicated in clinical practice, its effectiveness and working mechanisms have hardly been studied. Therefore, it is important to systematically describe the intervention process and to detect the working mechanisms to be able to evaluate them. Narrative case studies help to understand the intervention in more depth. A typical case file was selected for case reporting according to scientific (CARE & CARE-AAT) guidelines, with the aim to explore the therapeutic elements that contributed to the reduction of anxiety. The report describes the intervention process of a 54-year-old female, suffering from anxiety since childhood and diagnosed with panic disorder, agoraphobia, claustrophobia and hypochondria. After 14 sessions of anthroposophic art therapy, reduction of anxiety was shown, as well as improvements of emotion regulation and executive functioning. The client indicated that she became more tolerant and accepting towards her anxiety. She noted a softened attitude towards herself and her complaints, even one year after art therapy. The course of treatment suggests that aspects of emotion regulation and executive functioning were addressed through implicit learning processes in different art therapy assignments.
A rare case of small bowel leiomyosarcoma presenting with acute gastro-intestinal bleeding
Authors: Christine Jacqueline Tolman
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A 62-year-old Turkish female was admitted to our hospital with acute, progressive melena. Gastroscopy and colonoscopy could not reveal the cause of the melena. Subsequent CT angiography demonstrated a large, exophytic mass in the ileocecal junction as a source of the haemorrhage, leading to urgent laparotomy and resection. Histopathology revealed a low grade leiomyosarcoma (LMS) and confirmatory immunological staining. Primary LMS of the small bowel is an extremely rare gastrointestinal (GI) malignancy. Presentation with acute GI bleeding is even more exceptional, since LMS is a mainly intramural, exophytic tumour of the bowel wall. Immunohistochemistry plays a crucial role in differentiating LMS from GI stromal tumour. The work up of occult small bowel neoplasms currently consists of MRI enterography or enteroclysis and wireless capsule endoscopy. Treatment is surgical resection. This case highlights the non-specific imaging features of ileal LMS and highlights the management of acute GI bleed.
Familial mediterranean Fever: diagnosing as early as 3 months of age
Authors: Gonca Keskindemirci, Nuray Aktay Ayaz, Esin Aldemir, Ciğdem Aydoğmuş, Gönül Aydoğan, Sultan Kavuncuoğlu
Journal: Case Rep Pediatr (2014)

Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries.
Long-term complete remission with Ipilimumab in metastatic castrate-resistant prostate cancer: case report of two patients
Authors: Luc Cabel, Elika Loir, Gwenaelle Gravis, Pernelle Lavaud, Christophe Massard, Laurence Albiges, Giulia Baciarello, Yohann Loriot, Karim Fizazi
Journal: J Immunother Cancer (2017)
Keywords: immunotherapy, ipilimumab, metastatic castrate-resistant prostate cancer
MeSH terms: Antineoplastic Agents, Immunological / therapeutic use, Immunotherapy / methods, Ipilimumab / therapeutic use, Prostatic Neoplasms, Castration-Resistant / drug therapy, Case Reports, Antineoplastic Agents, Immunological / administration & dosage, Antineoplastic Agents, Immunological / pharmacology, Humans, Ipilimumab / administration & dosage, Ipilimumab / pharmacology, Male, Middle Aged, Neoplasm Metastasis, Antineoplastic Agents, Immunological, Ipilimumab

Background:
Prostate cancer is one of the most common cancers in men and the fourth leading cause of cancer mortality worldwide. Although major progress has been achieved in the last years for patients with metastatic castrate-resistant prostate cancer (mCRPC), thanks to next-generation androgen receptor axis targeted drugs, taxanes, and bone-targeted agents, immunotherapy has not been widely approved and used for the treatment of prostate cancer. Two large studies with ipilimumab, an anti-CTLA-4 (cytotoxic T-lymphocyte antigen 4) antibody reported improved progression-free survival, but not statistically improved overall survival at the primary analysis (CA184 043 and CA184 095).
Case presentation:
Here, we report on two patients who received ipilimumab in these trials and are still in long-term complete remission with a follow-up of 64 and 52 months respectively after the initiation of ipilimumab. Immunohistochemical staining for hMLH1, hMSH2, hMSH6 and PMS2 was performed on archival prostate biopsy samples from one of the two patients; they exhibited normal protein expression. Interestingly for this patient, a high CD3+ and CD8+ T cell infiltration was observed on archival prostate biopsies as well as Treg FoxP3+ T cells.
Conclusion:
Ipilimumab produces clinical activity in patients with CRPC, including very long responders with no detectable residual disease.
Case Report: The ultrasound features of acquired cystic disease-associated renal cell carcinoma: a case series
Authors: Yanrong Yang, Hongyan Chen, Yongzhong Li, Jiaojiao Zhou
Journal: Front Oncol (2023)
Keywords: acd-rcc, case, image, pathology, ultrasound
MeSH terms: Case Reports

Background:
Acquired cystic disease-associated renal cell carcinoma (ACD-RCC) is a new subtype listed by the 2016 World Health Organization (WHO) classification, which occurred in end-stage renal disease (ESRD) patients. This study will present the imaging characteristics of the four cases diagnosed with ACD-RCC. Ultrasound is expected to help detect abnormalities early in the follow-up of patients on regular dialysis, allowing patients to receive early treatment.
Case presentation:
We searched the pathology database of our hospital for all inpatients diagnosed with ACD-RCC between January 2016 and May 2022. Pathology, ultrasound, and radiology readings are performed by experienced physicians with the title of attending physician or higher. Four cases were included in this study, all of whom were male, aged from 17 to 59. Two cases suffered from ACD-RCC in both kidneys, and kidney nephrectomies were performed. One case underwent renal transplantation, whose creatinine was back to normal, and the rest were on hemodialysis. On the pathological images, heteromorphic cells and oxalate crystals can be seen. Both ultrasound and enhanced CT showed an enhancement of the solid component of the occupancy. We followed up with outpatient and telephone visits.
Conclusion:
In clinical work, ACD-RCC should be considered when the mass appears in the background of multiple cysts in the kidney in patients with ESRD. A timely diagnosis will help with treatment and prognosis.
Percutaneous vertebroplasty for SAPHO syndrome with vertebral destruction: a case report and literature review
Authors: Yuanpei Cheng, Hao Feng, Junhan Mu, Jialin Chen, Han Wu
Journal: Front Med (Lausanne) (2023)
Keywords: sapho syndrome, case report, osteoarticular lesion, percutaneous vertebroplasty, vertebral destruction
MeSH terms: Case Reports

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare musculoskeletal disease characterized by dermatological and osteoarticular lesions. However, SAPHO syndrome is difficult to be diagnosed due to the rarity and complexity. Additionally, there is no standard treatment for SAPHO syndrome based on limited experience. Percutaneous vertebroplasty (PVP) has rarely been reported to treat SAPHO syndrome. We reported a 52-year-old female patient who had a sex-month history of back pain. Palmoplantar pustulosis appeared on the hands and feet. Vertebral destruction was observed on computed tomography (CT) scanning. Laboratory examination showed that erythrocyte sedimentation rate (ESR) and C-reactive protein were elevated. Finally, the patient was diagnosed with SAPHO syndrome and treated with PVP. After the surgery, the back pain was significantly relieved. In this study, we mainly discussed the treatment methods of SAPHO syndrome, and provided a potential treatment for SAPHO syndrome, especially with vertebral destruction, kyphosis, and even pathological fractures.
Atraumatic splenic rupture in a patient treated with apixaban: A case report
Authors: Ho-Cing Victor Yau, Sharin Pradhan, Lingjun Mou
Journal: Int J Surg Case Rep (2020)
Keywords: apixiban, atraumatic splenic rupture, splenectomy
MeSH terms: Case Reports

Introduction:
Splenic rupture is often seen in the context of significant trauma. Atraumatic ruptures are described in the context of malignancy, inflammation or infection directly affecting the spleen. Splenic ruptures occurring in patients taking apixaban, a factor Xa inhibitor, are challenging due to the scarcity of a direct reversal agent.
Presentation of case:
A 66 year old male presented with syncope and back pain and was found to be haemodynamically unstable and tender in the left upper quadrant. There was no preceding trauma. He has a background of extensive major arterial reconstruction and was taking apixaban for atrial fibrillation. A diagnosis of splenic rupture was confirmed on cross sectional imaging. A laparotomy and splenectomy was necessitated as salvage therapy following splenic artery embolisation. He recovered well and was discharged home 6 days after laparotomy.
Conclusion:
Definitive intervention is required for the management of splenic ruptures. A high level of clinical suspicion should be maintained in patients taking direct oral anticoagulants presenting with haemodynamic instability. Open splenectomy remains the most definitive option for treatment of atraumatic rupture in anticoagulated patients.
Seronegative Myasthenia Gravis, as a Rare Autoimmune Condition in Turner Syndrome
Authors: Rimah Sharief, Amir Miodovnik, Roja Motaghedi
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Girls with Turner syndrome (TS), especially with isochromosome 46,X,i(X)(q10), are prone to develop autoimmunity. Associations of several autoimmune conditions with TS have been frequently described in the past. However, the unique combination of TS and myasthenia gravis (MG) has been reported only once before in a girl with mosaic monosomy 45,X/46,XX. Here, we present the second case of a girl affected with seronegative MG but with mosaic isochromosome TS. This is a child with developmental delay presented with muscle weakness, frequent fall, and bilateral ptosis. Diagnosis of MG was made based on positive Tensilon and electromyography tests and excellent response to intravenous immunoglobulin. At the age of 11 years due to short stature and developmental delay, a karyotype was done and revealed the mosaic isochromosome 45,X/46,X,i(X)(q10). Overall, clinicians should be aware of the vulnerability of girls with TS to autoimmunity, especially if the isochromosome 46,X,i(X)(q10) karyotype is identified. Furthermore, if a child with TS develops muscle weakness, ptosis, or ophthalmoplegia, MG should also be included in the differential diagnosis, particularly if other concurrent autoimmune conditions are present.
Aggressive Trimodality Therapy for T1N2M1 Nonsmall Cell Lung Cancer with Synchronous Solitary Brain Metastasis: Case Report and Rationale
Authors: Timothy N Showalter, Alexander Lin
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Aggressive treatment, including resection of both metastasis and primary tumor, has been studied for non-small cell lung cancer patients with synchronous solitary brain metastasis. Involvement of mediastinal lymph nodes is considered a poor prognostic factor and a contraindication to surgical resection of the primary lung tumor after treatment for brain metastasis. Here we present the case of a patient who presented with a Stage IV T1N2M1 non-small cell lung cancer with synchronous solitary brain metastasis. He is alive and without evidence of disease two years after aggressive, multimodality treatment that included craniotomy, whole-brain radiation therapy, thoracic surgery, chemotherapy, and mediastinal radiation therapy.