scholarly journals A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Pragya Shrestha ◽  
Geetika Sabharwal ◽  
Gisoo Ghaffari
Keyword(s):  
Hidradenitis Suppurativa ◽  
Novel Mutation ◽  
Young Female ◽  
Skin Infections ◽  
Presenting Symptoms ◽  
Hyper Ige Syndrome ◽  
Immunodeficiency Disorder ◽  
History Of ◽  
Lung Infections

Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.

scholarly journals Hypertrophic Osteoarthropathy: A Secondary Manifestation of Malignant Melanoma

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Shiva Malaty ◽  
Aditya Gupta
Keyword(s):  
Metastatic Melanoma ◽  
Plain Film ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Studies ◽  
Case Presentation ◽  
Rare Finding ◽  
Presenting Symptoms ◽  
Lung Malignancies ◽  
History Of

Background. Hypertrophic osteoarthropathy (HOA) is a rare finding in the setting of metastatic melanoma. A majority of cases of secondary HOA involve lung malignancies. Evaluation of presenting symptoms such as polyarthralgia and clubbing followed by review of imaging studies are diagnostic steps for HOA. Case Presentation. We present a 60-year-old female with a history of metastatic melanoma who presented with bilateral and symmetric polyarthralgia and clubbing. A plain film radiograph demonstrated periosteal thickening involving the metacarpals and proximal phalanges as well as the distal radius and ulna, consistent with HOA. The patient was treated with nonsteroidal anti-inflammatory agents for supported care. Conclusion. HOA may be a secondary manifestation of metastatic melanoma. Recognition and supportive care of this condition may lead to improved quality of life for patients.

scholarly journals A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Christin B. Laufer ◽  
Layne B. Green ◽  
Darren E. Whittemore
Keyword(s):  
Novel Mutation ◽  
Fumarate Hydratase ◽  
Uterine Fibroids ◽  
Papillary Renal Cell Carcinoma ◽  
Young Female ◽  
Cancer Predisposition Syndrome ◽  
Dermatology Clinic ◽  
Underlying Malignancy ◽  
History Of ◽  
Cutaneous Leiomyomas

Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management.

Baseline Characteristics of a National French E-Cohort of Hidradenitis Suppurativa in ComPaRe and Comparison with Other Large Hidradenitis Suppurativa Cohorts

Dermatology ◽  
2021 ◽  
pp. 1-11
Author(s):  
Morgane Condamina ◽  
Laetitia Penso ◽  
Viet-Thi Tran ◽  
Claire Hotz ◽  
Philippe Guillem ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Hidradenitis Suppurativa ◽  
Real Life ◽  
Epidemiological Studies ◽  
Scientific Data ◽  
Disease Stage ◽  
Treatment History ◽  
Patient Reported ◽  
History Of

<b><i>Background:</i></b> Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition substantially impacting patients’ quality of life; the pathogenesis remains unclear, and treatment is complex and not yet standardized. Observational data are increasingly being used to evaluate therapeutics in “real-life” interventions, and the development of e-cohorts is offering new tools for epidemiological studies at the population level. <b><i>Objective:</i></b> The aim of this study was to describe the clinical characteristics and treatment history of HS participants in the Community of Patients for Research (ComPaRe) cohort and to compare these to other cohorts. <b><i>Methods:</i></b> We performed a cross-sectional study of the baseline data of HS participants in ComPaRe, an e-cohort of patients with chronic diseases. Data were collected using patient-reported questionnaires about clinical-dem­ographic aspects, quality of life, and treatment history. <b><i>Results:</i></b> A total of 396 participants (339 females, 57 males) were included (mean age 38 years); 83 (21%) had a family history of HS, 227 (57.3%) were current smokers, and 241 (60.9%) were overweight or obese. Most of the participants declared a Hurley stage II (<i>n</i> = 263, 66.4%) or III (<i>n</i> = 76, 20.3%). The breast was more frequently affected in women than men (37.5 vs. 5.3%, <i>p</i> &#x3c; 0.0001), whereas the dorsal region was more frequently affected in men (39.5 vs. 10.9%, <i>p</i> &#x3c; 0.0001). Increased disease stage was associated with obesity (25.9 vs. 33.8 vs. 51.3%, <i>p</i> = 0.02) and some HS localizations (genital [<i>p</i> &#x3c; 0.005], pubis [<i>p</i> &#x3c; 0.007], gluteal fold [<i>p</i> = 0.02], and groin [<i>p</i> &#x3c; 0.0001]). The most frequently prescribed treatments were oral antibiotics (<i>n</i> = 362, 91.4%), especially amoxicillin-clavulanic acid and cyclins. Less than 10% of participants received biologics. Most of these results were consistent with previously published cohorts. <b><i>Conclusion:</i></b> Recruitment of participants by such a web platform can be a faster way to get relevant scientific data for a wide variety of patients that could be used for epidemiological studies and to evaluate therapeutics in “real-life” interventions.

Natural History of Arteriovenous Malformations

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P41-P42
Author(s):  
James Y Suen ◽  
Lisa M Buckmiller ◽  
Chun-Yang Fan ◽  
Gal Shafirstein ◽  
Robert Glade
Keyword(s):  
Quality Of Life ◽  
Natural History ◽  
Surgical Resection ◽  
Healthcare Providers ◽  
Previous Treatment ◽  
Insurance Companies ◽  
Preoperative Embolization ◽  
Presenting Symptoms ◽  
History Of

Objective 1) To demonstrate the natural history of arteriovenous malformation (AVMs) when left untreated or inadequately managed. 2) To demonstrate the need for major treatment to patients, families, healthcare providers, and insurance companies. Methods Records from 10 of 50 representative patients treated at University of Arkansas for Medical Sciences (UAMS) for advanced AVMs were reviewed for age at presentation, gender, presenting symptoms, previous treatment, disease course, and post-presentation management. Patients were asked if quality of life had improved after treatment at UAMS Facial photos from childhood were obtained and compared with photos taken at time of presentation. Results 10 patients (7 male, 3 female, range 21–46 years) received treatment. All patients presented with bleeding, pain and/or facial destruction. 6 of 10 patients received previous embolization. No patients had undergone previous surgical resection. All were informed by a previous physician that the disease was incurable or treatment options had been exhausted. All patients experienced subsequent worsening of symptoMS All patients were treated at UAMS with preoperative embolization followed by surgical resection and required multiple surgeries to remove persistent AVM. All patients indicated quality of life improved after embolization/surgical resection. Comparison of photos revealed progression of disease in all cases marked by facial destruction and deformity. Conclusions AVMs display a progressive and destructive nature when left untreated or inadequately managed. Natural history can be used to demonstrate to patients, families, and healthcare providers the seriousness of disease and convince insurance companies that radical treatment is typically necessary to obtain control or cure.

scholarly journals Atopic Dermatitis or Hyper IgE Syndrome?

2015 ◽  
Vol 35 (1) ◽  
pp. 59-61
Author(s):  
M Ahmed ◽  
A Kumar ◽  
D Raj
Keyword(s):  
Early Childhood ◽  
Atopic Dermatitis ◽  
Supportive Care ◽  
Female Child ◽  
Outpatient Department ◽  
Skin Infections ◽  
Hyper Ige Syndrome ◽  
History Of ◽  
Laboratory Investigations ◽  
Current Report

Eczema and skin infections are commonly encountered in children in the outpatient department. However, presence of both recurrent dermatitis and skin infections should alarm one to consider Hyper IgE syndrome (HIES) as a differential. Here we present a case of HIES in a two and a half year old female child with history of recurrent dermatitis and skin infections in the form of cold abscesses. Laboratory investigations showed markedly elevated IgE levels and high absolute eosinophils counts. Patient was treated with trimethoprim-sulfamethoxazole and supportive care. The current report highlights the fact that HIES can present in early childhood with just skin manifestations and without any significant pulmonary manifestations.J Nepal Paediatr Soc 2015;35(1):59-61

scholarly journals Electrolyte disorders in a young female following short-term omeprazole therapy

2018 ◽  
Vol 7 (5) ◽  
pp. 1040
Author(s):  
Collins Amadi ◽  
Emmanuel M. Owamagbe ◽  
Ugochukwu S. Duru
Keyword(s):  
Young Female ◽  
Laboratory Evaluation ◽  
Electrolyte Disorders ◽  
Laboratory Findings ◽  
Presenting Symptoms ◽  
Essentially Normal ◽  
Lower Extremity Muscle ◽  
Tingling Sensation ◽  
History Of ◽  
Plasma Magnesium

A 29 years old female presented to us in the metabolic clinic of the University of Port Harcourt Teaching Hospital (UPTH) on account of a week history of easy fatigability, weakness, and lower extremity muscle cramps associated with numbness and tingling sensation in the peri-oral area, fingers and toes. Two weeks prior to the onset of her presenting symptoms, she had visited a local pharmaceutical shop on account of a distressing epigastric discomfort and was subsequently placed on daily oral omeprazole 20mg daily for a month by a pharmacist. She had been on the omeprazole medication for two weeks before her present symptoms manifested. Her past medical history was not suggestive of hypoparathyroidism nor pancreatitis. She was married with three children and has an uneventful family, social and obstetric histories. On examination, she was a healthy well-oriented young female with positive Trousseau’s, Chvostek’s and epigastric tenderness signs. Further Laboratory evaluation revealed she had low plasma magnesium, low plasma albumin-corrected calcium, and low serum parathyroid hormone levels, while other laboratory parameters were essentially normal. A diagnosis of omeprazole-induced electrolyte disorders (hypomagnesaemia and hypocalcaemia) associated with hypoparathyroidism was made following the review of her clinical examination and laboratory findings. She was subsequently managed with oral magnesium supplements following the withdrawal of the omeprazole medication (replaced with oral ranitidine), monitored weekly, and full recovery was achieved after three weeks.

scholarly journals Mutation in the Codon V180i in Familial Creutzfeldt-Jakob Disease with Diffuse Cortical Hyperintensity, in Brazil

2021 ◽  
Author(s):  
Fernando de Paiva Melo Neto ◽  
Artêmio José Araruna Dias ◽  
Marinna Karla da Cunha Lima Viana ◽  
Maurício Vasconcelos Valadares Neto ◽  
Paulo Francisco Lucena de Araújo Espínola ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Memory Loss ◽  
Therapeutic Management ◽  
Presenting Symptoms ◽  
Slow Progression ◽  
Patient Reported ◽  
History Of ◽  
Jakob Disease ◽  
Proper Diagnosis

Context: Familial Creutzfeldt-Jakob Disease (fCJD) represents 10 to 15% of CJD. Among its subtypes there is a mutation in codon V180I, in which, in complementary exams are observed an absence of specific findings in the electroencephalogram, low concentration of proteins in the CSF and a pattern of diffuse cortical hyperintensity (DCH) in the diffusion sequence identified by MRI. The fCJD with mutation in the V180I codon is predominant in females, presenting symptoms at an advanced age, slow progression, marked by important cognitive decline and low presence of myoclonus. Regarding therapeutic management, there is still no curative or modifying treatment, although the multidisciplinary approach plays a fundamental role in control and quality of life. Case report: A 72 years old male patient reported a history of recent progressive memory loss for three months. It evolved with difficulty in recognizing family members, repetitive behavior, global aphasia, instability when walking until reaching akinetic mutism. The diffusion sequence of MRI revealed areas of diffuse hyperintensity throughout the cerebral cortex. In view of this and after ruling out other etiologies, a mutation in the V180I codon related to fCJD was found. Conclusion: Given the rarity of this form of the disease, a rapid suspicion is essential, with imaging tests, especially skull MRI, and genetic tests, aiming at the proper diagnosis of CJD and its genetic form, with its correct therapeutic management.

scholarly journals Nymphomania Associated With Childhood Sexual Abuse: A Case Report

2021 ◽  
pp. 263183182110136
Author(s):  
Swaleha Mujawar ◽  
Suprakash Chaudhury ◽  
Daniel Saldanha ◽  
Aslam Khan Jafar
Keyword(s):  
Sexual Abuse ◽  
Case Report ◽  
Childhood Sexual Abuse ◽  
Young Female ◽  
Emotional Involvement ◽  
History Of Childhood ◽  
Sexual Drive ◽  
History Of ◽  
Proper Diagnosis

Defining and classifying nymphomania has been a challenge for clinicians. It is characterized by an unquenchable urge to engage in repeated sexual contact with many partners without a deep emotional involvement. The sexual drive is unvarying, voracious, impetuous, and unrestrained. The case report describes a young female who presented with increased sexual desires and engaging in excessive sexual activity leading to divorce and marital disharmony in her second marriage. There was a history of childhood sexual abuse. Women developed nymphomania out of engagement in the behavior due to a genetic predisposition or from an environmental stressor such as trauma or sexual abuse. Since sex addiction is not a recognized disorder in DSM-5 or ICD-11, women who have this disorder have difficulty receiving treatment. Proper diagnosis and treatment of such patients will lead to better functioning and quality of life.

Refractory Ascites as the Only Presenting Symptom of Chronic Calcified Constrictive Pericarditis: A Diagnostic Challenge

2014 ◽  
Vol 17 (1) ◽  
pp. 42
Author(s):  
Shi-Min Yuan
Keyword(s):  
Computed Tomography ◽  
Liver Cirrhosis ◽  
Female Patient ◽  
Constrictive Pericarditis ◽  
Delayed Diagnosis ◽  
Young Female ◽  
Refractory Ascites ◽  
Diagnostic Challenge ◽  
Massive Ascites ◽  
History Of

Extracardiac manifestations of constrictive pericarditis, such as massive ascites and liver cirrhosis, often cover the true situation and lead to a delayed diagnosis. A young female patient was referred to this hospital due to a 4-year history of refractory ascites as the only presenting symptom. A diagnosis of chronic calcified constrictive pericarditis was eventually established based on echocardiography, ultrasonography, and computed tomography. Cardiac catheterization was not performed. Pericardiectomy led to relief of her ascites. Refractory ascites warrants thorough investigation for constrictive pericarditis.

Probiotics in gastroenterology – from a different angle

2013 ◽  
Vol 154 (8) ◽  
pp. 294-304 ◽  
Author(s):  
György Miklós Buzás
Keyword(s):  
Side Effects ◽  
Beneficial Effect ◽  
Analytical Data ◽  
Well Being ◽  
Gastrointestinal Diseases ◽  
Convincing Evidence ◽  
Probiotic Treatment ◽  
History Of ◽  
Irritable Bowel

After a short overview of the history of probiotics, the author presents the development of human intestinal microflora based on the newest genetic data and the microbiological features of main probiotics. The indications of probiotic administration have been defined and extended in recent years. The author reviews significant results of probiotic treatment in some gastrointestinal diseases based on meta-analytical data. Probiotics are useful in preventing and treating diarrhoea caused by antibiotics and Clostridium difficile caused diarrhoea. In the treatment of Helicobacter pylori infection, preparations containing certain Lactobacillus,Bifidobacterium strains or Saccaromyces boulardii could enhance by 5–10% the rate of successful eradication and reduce the incidence and severity of the side effects. Some symptoms of irritable bowel syndrome and thus the quality of life can be improved by probiotics. Their beneficial effect in ulcerative colitis was proven, while in Crohn’s disease has not yet been defined. The use of probiotics is not included in guidelines, with the exception of the Maastricht IV/Florence consensus. For each disease it is advisable to use probiotics containing strains only with proven beneficial effect. The efficiency of preparations containing mixed strains has not yet been properly investigated. The author reviews the rare but potentially serious side effects of probiotics. In Hungary, there are many probiotic preparations available which can be purchased in pharmacies without prescription: their use is more empirical than evidence-based. The European Food Safety Authority has recently rejected claims for probiotics to be classed as medicines given the lack of convincing evidence on the effects of probiotics on human health and well-being. Clearly, further research is needed to collect evidence which could be incorporated into the international guidelines. Orv. Hetil., 2013, 154, 294–304.

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