Response to Combination of Pembrolizumab and Axitinib in Hereditary Leyomiomatosis and Renal Cell Cancer (HLRCC)

In current clinical guidelines, such as those provided by the National Comprehensive Cancer Network (NCCN), evidence for treatment is based on a small clinical trial that included patients with HLRCC. They support the use of the combination of erlotinib and bevacizumab as the first therapeutic option in this rare condition. In the present study, we report a rare case of this condition in an 18-year-old male with a family history of kidney cancer whom we successfully treated with surgery and a novel drug treatment modality based on the combination of an immune check-point inhibitor (ICPI) and a tyrosine-kinase inhibitor (TKI) with excellent and promising results.

Download Full-text

Topical Tacrolimus in the Treatment of Erosive Pustular Dermatosis of the Scalp

Journal of Cutaneous Medicine and Surgery ◽

10.2310/7750.2007.00027 ◽

2007 ◽

Vol 11 (6) ◽

pp. 222-225 ◽

Cited By ~ 18

Author(s):

Marta J. Cenkowski ◽

Shane Silver

Keyword(s):

Light Exposure ◽

Therapeutic Option ◽

Rare Condition ◽

Initial Therapy ◽

Topical Steroids ◽

Topical Tacrolimus ◽

History Of ◽

Prevention Of Relapse

Background: Erosive pustular dermatosis of the scalp (EPDS) is a rare condition characterized by chronic, sterile, pustular erosions leading to scarring alopecia. Although the etiology is unknown, it appears to be associated with ultraviolet light exposure and trauma. Histologic findings include nonspecific atrophy of the epidermis and chronic inflammation. Case History: A 71-year-old female presented with a 1-year history of a boggy, erythematous, friable plaque on the vertex of her scalp. A diagnosis of EPDS was made based on presentation, negative cultures, and histologic findings. Initial therapy with intralesional and topical steroids and oral antibiotics resolved the inflamed plaques; however, steroid-induced atrophy became prominent after 5 months of use. The treatment was discontinued, resulting in recurrence of disease. Topical tacrolimus 0.1% ointment was initiated, which has been successfully controlling the lesions with reversal of skin atrophy and clinical evidence of hair growth. Conclusion: This is the fourth reported case of the successful treatment of EPDS with topical tacrolimus for the resolution of atrophy and the prevention of relapse of inflammation. Although its long-term use warrants close follow-up for side effects, tacrolimus may constitute a novel therapeutic option for the treatment of EPDS.

Download Full-text

Rare case of clear cell renal cell carcinoma presenting as a unilateral tonsil lesion

BMJ Case Reports ◽

10.1136/bcr-2020-237941 ◽

2020 ◽

Vol 13 (12) ◽

pp. e237941

Author(s):

Shawn David Ellis ◽

Alison Meikle ◽

Wassim Al-Salti ◽

Georges Sinclair

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Kinase Inhibitor ◽

Lung Metastases ◽

Cell Cancer ◽

Rare Presentation ◽

Cell Renal Cell Carcinoma ◽

History Of ◽

Diagnosis Of Cancer

A 70-year-old man presented with gradually worsening throat discomfort. He had no prior diagnosis of cancer and no travel history of note. Examination revealed a right-sided painless neck lump. He underwent an MRI of the neck, revealing a gadolinium-enhancing tonsillar mass and two brain lesions. Biopsy of the tonsil lesion was in keeping with an epithelial neoplasm, suggesting metastatic renal cell carcinoma. This was confirmed following a staging CT, which revealed a left renal mass and lung metastases. Due to his brain metastases, the patient has been started on the tyrosine kinase inhibitor cabozantinib. A brief discussion on the diagnostic evaluation of a tonsil mass as a rare presentation of renal cell cancer follows this report.

Download Full-text

An overview of Osmotic Drug Delivery System: An update review

International Journal of Bioassays ◽

10.21746/ijbio.2017.07.001 ◽

2017 ◽

Vol 6 (7) ◽

pp. 5426 ◽

Cited By ~ 2

Author(s):

Hiren J. Patel ◽

Vaishnavi P. Parikh

Keyword(s):

Drug Delivery ◽

Drug Delivery Systems ◽

Life Cycle Management ◽

Delivery Systems ◽

Osmotic Pump ◽

Factors Affecting ◽

Advantages And Disadvantages ◽

New Chemical Entities ◽

History Of ◽

Novel Drug

The pharmaceutical industry has faced several marked challenges in order to bring new chemical entities (NCEs) into the market over the past few decades. Various novel drug delivery approaches have been used as a part of life cycle management from which Osmotic drug delivery systems look the most promising one. After discussing the history of osmotic pump development, this article looks at the principles, advantages and disadvantages of osmotic drug delivery systems. Then, the basic components of osmotic pump and factors affecting the design of oral osmotic drug delivery systems are discussed in detail. In the later part of the manuscript, various types of osmotic pumps available in the market and evaluation methods for osmotic drug delivery systems are discussed in detail.

Download Full-text

Rare Etiology of Odynophagia in a Female Adolescent

Case Reports in Gastroenterology ◽

10.1159/000513801 ◽

2021 ◽

pp. 352-358

Author(s):

Anastasios Koutsoumourakis ◽

Asterios Gagalis ◽

Maria Fotoulaki ◽

Maria Stafylidou

Keyword(s):

Antiviral Treatment ◽

Healing Process ◽

Rare Condition ◽

Female Adolescent ◽

Mucosal Barrier ◽

Esophageal Mucosa ◽

Intact Immune System ◽

History Of ◽

Orolabial Herpes

Herpes esophagitis (HE) is a rare condition in immunocompetent adolescents. However, it commonly occurs as a primary infection in younger individuals. Herein, we report a 16-year-old female patient who had a history of fever for 5 days, odynophagia, and orolabial herpes infection for 7 days. Clusters of painful vesicles on an erythematous base on the lips, gingiva, and palate were observed on physical examination. Further, esophagogastroduodenoscopy revealed diffuse linear ulcerations in the distal esophagus. The patient then received the following treatment: intravenous (I.V.) acyclovir 5 mg/kg three times a day, I.V. omeprazole 40 mg two times a day, and acyclovir 5% cream four times a day. After 8 days of admission, the patient was discharged. A follow-up esophagogastroduodenoscopy was performed 7 weeks after discharge, and the results revealed that the esophageal mucosa had a normal appearance. The effect of antiviral treatment against HE remains unknown in these patients. Nevertheless, it is believed to accelerate the healing process in individuals with esophageal mucosal barrier damage. To the best of our knowledge, this case of a female adolescent with an intact immune system is the sixth case of herpes simplex esophagitis to be reported in the literature.

Download Full-text

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽

10.1177/27325016211005062 ◽

2021 ◽

pp. 273250162110050

Author(s):

Samuel Ruiz ◽

Rizal Lim

Keyword(s):

Pediatric Population ◽

Rare Complication ◽

Disease Process ◽

Rare Condition ◽

External Drainage ◽

Direct Extension ◽

Life Threatening ◽

History Of ◽

High Index Of Suspicion ◽

Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

Download Full-text

Bilateral Congenital Humeroradial Synostostis Presenting with Bilateral Proximal Radius Fractures: A Case Report

Case Reports in Orthopedic Research ◽

10.1159/000512183 ◽

2021 ◽

pp. 29-32

Author(s):

Elsiddig E. Mahmoud

Keyword(s):

Case Report ◽

Elbow Joint ◽

Parental Education ◽

Functional Disability ◽

Congenital Abnormalities ◽

Rare Condition ◽

Radius Fractures ◽

Proximal Radius ◽

History Of ◽

Uncommon Condition

Congenital bilateral humeroradial synostosis (HRS) is a rare condition. It is generally divided into 2 categories. In the first group, which is mainly sporadic, additional upper limb hypoplasia typically coexists. In the second group, which is classically familial, HRS is commonly an isolated upper extremity anomaly. HRS can lead to variable degrees of functional disability. The clinical case reported here illustrates a possibly avoidable presentation of this uncommon condition. In this case report, we present a 6-week-old male who presented with bilateral radius fractures. Radiography revealed congenital HRS at both elbows. No other associated congenital abnormalities were detected, and there was no family history of similar conditions in any first-degree relatives. In cases of congenital HRS, movement at the elbow joint is not possible. Parents who are unaware of this information might try to straighten their infant’s elbows, which in turn may result in fractures of the proximal radius. Hence, early diagnosis and proper parental education could prevent fractures as a sequela of HRS.

Download Full-text

Topical Tofacitinib: A Janus Kinase Inhibitor for the Treatment of Vitiligo in an Adolescent Patient

Case Reports in Dermatology ◽

10.1159/000513938 ◽

2021 ◽

pp. 190-194

Author(s):

Sineida Berbert Ferreira ◽

Rachel Berbert Ferreira ◽

Afonso Cesar Neves Neto ◽

Silvana Martins Caparroz Assef ◽

Morton Scheinberg

Keyword(s):

Case Report ◽

Skin Disease ◽

Kinase Inhibitor ◽

Effective Therapy ◽

Janus Kinase ◽

Jak Inhibitor ◽

Adolescent Patient ◽

Jak Inhibitors ◽

Janus Kinase Inhibitor ◽

History Of

Vitiligo is an autoimmune skin disease presenting with areas of depigmentation. Recent reports suggest that Janus kinase (JAK) inhibitors may be an effective therapy. In this case report, we show our experience with an adolescent patient with a long history of generalized and refractory vitiligo, for which treatment with topical tofacitinib, a JAK inhibitor, associated with phototherapy for 9 months, resulted in near complete repigmentation.

Download Full-text

P043 Fascinating phosphate: seek and you will find

Rheumatology ◽

10.1093/rheumatology/keab247.040 ◽

2021 ◽

Vol 60 (Supplement_1) ◽

Author(s):

Jyoti Bakshi ◽

Clare Batten

Keyword(s):

Back Pain ◽

Degenerative Change ◽

Nasal Bone ◽

Rare Condition ◽

Whole Body ◽

Excision Biopsy ◽

Small Lesion ◽

History Of ◽

The Right ◽

Fgf 23

Abstract Background/Aims A 62-year-old accountant was referred to the metabolic bone clinic with a 2 year history of thoracic back pain and a persistently raised ALP. There were no associated red flags for her back pain. She had a history of a gluteal lump, thought to be benign, for which she had declined excision. She has hypertension and had a previous navicular fracture. Medications included bendroflumethiazide and Adcal D3. She had restriction in neck movements and was tender to percussion in the thoracic spine. There was no proximal weakness or focal neurology. Systems and joint exam were unremarkable. Methods The case is discussed below. Results Salient abnormal results on presentation were a raised ALP of 207 and corrected calcium of 2.34. PTH was elevated at 8.2 (NR:1.6-6.9), Vitamin D 79 and a low phosphate of 0.34 (NR:0.8-1.50). Alkaline phosphatase isoenzymes showed the raised level came from bone. Protein and urine electrophoresis were normal. A bone density scan was normal, and a recent thoracic MRI showed only degenerative change. An isotope bone scan was requested and was reported to show increased activity in the nasal bone, maxilla and both orbits, raising the possibility of Paget’s disease. However, when reviewed in the Radiology meeting with a skull x-ray, the appearances were not felt to be in keeping with Paget’s. Despite physiotherapy, hydrotherapy, acupuncture and neuropathic medication the patient’s back pain continued. Her phosphate remained low and her calculated tubular reabsorption of phosphate from a 24h urine collection (TmP/GFR) was low at 0.42mmol/l (NR 0.80-1.35). She was started on phosphate replacement and calcitriol, and Adcal D3 was continued. The Fibroblast Growth Factor (FGF) 23 levels were sent and came back significantly elevated at 1380 (NR < 100). A 68Ga DOTA-TATE scan (whole body PET/CT scan), confirmed the right gluteal lump as the source of the FGF 23. The patient went on to have an excision biopsy and histology confirmed a mesenchymal tumour of the right buttock. Her phosphate replacement was gradually weaned, but on reducing the dose phosphate levels dropped and her symptoms returned. The repeat TmP/GFR was again low at 0.61, and FGF 23 levels were still raised at 204. A repeat 68Ga DOTA-TATE scan, 4 years after the first one, showed recurrence of the right gluteal lesion and a possible small lesion in the left gluteal muscle. She has been sent for further excision. Conclusion Tumour induced osteomalacia (TIO) is a rare condition and should be considered in cases of hypophosphataemia. Classical symptoms are proximal weakness and muscle and bone pain. They are typically associated with small benign tumours (most commonly mesenchymal tumours) which may be difficult to find. Excision is curative but if small amounts of tumour remain, relapses may occur. Disclosure J. Bakshi: None. C. Batten: None.

Download Full-text

Familial Chylomicronemia Syndrome-Induced Acute Necrotizing Pancreatitis during Pregnancy

Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics ◽

10.1055/s-0040-1722173 ◽

2021 ◽

Vol 43 (03) ◽

pp. 220-224

Author(s):

Julia Cristina Coronado Arroyo ◽

Marcio José Concepción Zavaleta ◽

Eilhart Jorge García Villasante ◽

Mikaela Kcomt Lam ◽

Luis Alberto Concepción Urteaga ◽

...

Keyword(s):

Acute Pancreatitis ◽

Pancreatic Necrosis ◽

Clinical Course ◽

Necrotizing Pancreatitis ◽

Rare Condition ◽

Severe Hypertriglyceridemia ◽

Fetal Complications ◽

Acute Necrotizing ◽

History Of ◽

Important Objective

AbstractAcute pancreatitis is a rare condition in pregnancy, associated with a high mortality rate. Hypertriglyceridemia represents its second most common cause. We present the case of a 38-year-old woman in the 24th week of gestation with a history of hypertriglyceridemia and recurrent episodes of pancreatitis. She was admitted to our hospital with acute pancreatitis due to severe hypertriglyceridemia. She was stabilized and treated with fibrates. Despite her favorable clinical course, she developed a second episode of acute pancreatitis complicated by multi-organ dysfunction and pancreatic necrosis, requiring a necrosectomy. The pregnancy was ended by cesarean section, after which three plasmapheresis sessions were performed. She is currently asymptomatic with stable triglyceride levels. Acute pancreatitis due to hypertriglyceridemia represents a diagnostic and therapeutic challenge in pregnant women, associated with serious maternal and fetal complications. When primary hypertriglyceridemia is suspected, such as familial chylomicronemia syndrome, the most important objective is preventing the onset of pancreatitis.

Download Full-text

Double Pylorus in Upper Gastrointestinal Bleeding

Case Reports in Gastroenterology ◽

10.1159/000513804 ◽

2021 ◽

pp. 332-337

Author(s):

Heasty Oktaricha ◽

Muhammad Miftahussurur

Keyword(s):

Duodenal Bulb ◽

Rare Condition ◽

High Dose ◽

Protective Agent ◽

Gastrointestinal Fistula ◽

Double Pylorus ◽

History Of ◽

Inflammatory Drugs ◽

H Pylori ◽

Upper Gastrointestinal

Double pylorus, also known as acquired double pylorus, is a rare condition defined as a gastrointestinal fistula connecting stomach antrum and duodenal bulb. The prevalence of double pylorus ranges from 0.001 to 0.4% by esophagogastroduodenoscopy (EGD). Although the etiology is unknown, the formation of double pylorus is related to Helicobacter pylori infection and the use of non-steroidal anti-inflammatory drugs (NSAID). The development of the occurrence of double pylorus is still unknown, but many systemic diseases play a role. We present the case of a 59-year-old man who was admitted to Dr. Soetomo General Hospital with hematemesis and melena. The patient had a history of diabetes mellitus since 3 years and consumption of medicinal herbs for myalgia, which was suspected of NSAIDs for the past 5 months. The patient had anemia with hemoglobin at 8.3 g/dL, enterogenous azotemia with blood urea nitrogen 28 mg/dL and serum creatinine 1.14 mg/dL. At EGD, double pylorus was found and accompanied by gastric ulcer, a giant white base ulcer, part of it covered by clotting without any sign of active bleeding. Biopsy revealed chronic inactive gastritis, and no H. pylori was found. Treatment mainly depends on gastrointestinal acid suppression through a proton pump inhibitor (PPI). The patient was given a high-dose PPI and a mucosal protective agent. He was treated for 1 week and had improved complaints.

Download Full-text