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.

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.

Family history of uterine fibroids associated with low level of fumarate hydratase in leiomyomata cells

2009 ◽  
Vol 146 (2) ◽  
pp. 234-235 ◽  
Author(s):  
David Shveiky ◽  
Nathan Rojansky ◽  
Hannah Ben Bassat ◽  
Assaf Ben Meir ◽  
Benjamin Klein ◽  
...  
Keyword(s):  
Family History ◽  
Fumarate Hydratase ◽  
Uterine Fibroids ◽  
Low Level ◽  
History Of

scholarly journals Reed's Syndrome: A Case of Multiple Cutaneous Leiomyomas Treated with Liquid Nitrogen Cryotherapy

2016 ◽  
Vol 8 (1) ◽  
pp. 65-70 ◽  
Author(s):  
Mohammad A. Basendwh ◽  
Mohammad Fatani ◽  
Badee Baltow
Keyword(s):  
Liquid Nitrogen ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Skin Lesions ◽  
Dermatology Clinic ◽  
Increased Risk ◽  
Smooth Muscle Tumors ◽  
History Of ◽  
Cutaneous Leiomyomas ◽  
Dermal Lesion

Reed's syndrome is an autosomal dominant genetic disorder. Affected individuals are at increased risk of developing benign smooth muscle tumors in the skin and uterus. In this article, we report a case of a 52-year-old female who presented to our dermatology clinic complaining of painful skin lesions on her right arm, left forearm and trunk. The patient had a past medical history of uterine leiomyomatosis for which she underwent hysterectomy 17 years ago. The patient's family history revealed that her mother, 2 sisters and 2 maternal aunts also had uterine leiomyomas. The diagnosis of Reed's syndrome was confirmed by histopathologic examination of the patient's dermal lesion in conjunction with her surgical and family histories. Five years after the initial presentation, the patient underwent treatment with liquid nitrogen cryotherapy for the dermal leiomyomas. After the treatment, marked improvement was noticed with regard to the pain and size of the skin lesions.

History of uterine fibroids reported by California women

2008 ◽  
Author(s):  
Zipora Weinbaum ◽  
Terri Throfinnson
Keyword(s):  
Uterine Fibroids ◽  
History Of

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.

Safety of a Clozapine Trial Following Quetiapine-Induced Leukopenia: A Case Report

2019 ◽  
Vol 14 (1) ◽  
pp. 80-83 ◽  
Author(s):  
Asma H. Almaghrebi
Keyword(s):  
Treatment Options ◽  
Young Female ◽  
Similar Reaction ◽  
Careful Monitoring ◽  
Treatment Resistant ◽  
Blood Cell Count ◽  
Antipsychotic Medications ◽  
Case Presentation ◽  
Clozapine Treatment ◽  
History Of

Background: The clozapine-derivative quetiapine has been shown in some cases to cause leukopenia and neutropenia. Case Presentation: We reported on a case of a young female diagnosed with treatment-resistant schizophrenia. After failed trials of three antipsychotic medications and despite a history of quetiapineinduced leukopenia, clozapine treatment was introduced due to the severity of the patient’s symptoms, the limited effective treatment options, and a lack of guidelines on this issue. Result: Over a ten-week period of clozapine treatment at 700 mg per day, the patient developed agranulocytosis. Her white blood cell count sharply dropped to 1.6 &#215; 10<sup>9</sup> L, and her neutrophils decreased to 0.1 &#215; 10<sup>9</sup> L. There had been no similar reaction to her previous medications (carbamazepine, risperidone, and haloperidol). Conclusion: The safety of clozapine in a patient who has previously experienced leukopenia and neutropenia with quetiapine requires further investigation. Increased attention should be paid to such cases. Careful monitoring and slow titration are advisable.

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy

2020 ◽  
Vol 11 (1) ◽  
pp. 120-126
Author(s):  
Pham Ngoc Dong ◽  
Le Xuan Cung ◽  
Tran Khanh Sam ◽  
Do Thi Thuy Hang ◽  
Doug D. Chung ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Novel Mutation ◽  
Family Members ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Corneal Epithelial ◽  
Epithelial Phenotype ◽  
History Of ◽  
Characteristic Features

Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes. In this study, we report a novel mutation in the KRT12 gene in a Vietnamese pedigree with MECD. Slit-lamp examination was performed on each of the 7 recruited members of a Vietnamese family to identify characteristic features of MECD. After informed consent was obtained from each individual, genomic DNA was isolated from saliva samples and screening of KRT3and KRT12 genes was performed by Sanger sequencing. The proband, a 31-year-old man, complained of a 1-year history of eye irritation and photophobia. Slit-lamp examination revealed intraepithelial microcysts involving only the corneal periphery in each eye with clear central corneas and no stromal or endothelial involvement. Three family members demonstrated similar intraepithelial microcysts, but with diffuse involvement, extended from limbus to limbus. Sanger sequencing of KRT3 (exon 7) and KRT12 (exons 1 and 6) in the proband revealed a novel heterozygous KRT12 variant (c.1273G>A [p.Glu425Lys]) that was present in the three affected family members but was absent in the three family members with clear corneas. This study is the first report of a Vietnamese family affected with MECD, associated with an atypical peripheral corneal epithelial phenotype in the proband and a novel mutation in KRT12.

scholarly journals Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

2021 ◽  
Vol 22 (15) ◽  
pp. 7962
Author(s):  
Arisa Ueki ◽  
Kokichi Sugano ◽  
Kumiko Misu ◽  
Eriko Aimono ◽  
Kohei Nakamura ◽  
...  
Keyword(s):  
Fumarate Hydratase ◽  
European Origin ◽  
Pathogenic Variants ◽  
Multiple Metastases ◽  
History Of ◽  
Genetic Deletion ◽  
Aggressive Clinical Course ◽  
Written Informed Consent ◽  
Tumor Profiling

Hereditary leiomyomatosis and renal cell carcinoma (HL (RCC)) entails cutaneous and uterine leiomyomatosis with aggressive type 2 papillary RCC-like histology. HLRCC is caused by pathogenic variants in the FH gene, which encodes fumarate hydratase (FH). Here, we describe an episode of young-onset RCC caused by a genomic FH deletion that was diagnosed via clinical sequencing. A 35-year-old woman was diagnosed with RCC and multiple metastases: histopathological analyses supported a diagnosis of FH-deficient RCC. Although the patient had neither skin tumors nor a family history of HLRCC, an aggressive clinical course at her age and pathological diagnosis of FH-deficient RCC suggested a germline FH variant. After counseling, the patient provided written informed consent for germline genetic testing. She was simultaneously subjected to paired tumor profiling tests targeting the exome to identify a therapeutic target. Although conventional germline sequencing did not detect FH variants, exome sequencing revealed a heterozygous germline FH deletion. As such, paired tumor profiling, not conventional sequencing, was required to identify this genetic deletion. RCC caused by a germline FH deletion has hitherto not been described in Japan, and the FH deletion detected in this patient was presumed to be of maternal European origin. Although the genotype-phenotype correlation in HLRCC-related tumors is unclear, the patient’s family was advised to undergo genetic counseling to consider additional RCC screening.

Idiopathic subglottic stenosis in a young female patient

2021 ◽  
Vol 14 (5) ◽  
pp. e241525
Author(s):  
Benjamin Pomerantz ◽  
Michael Pomerantz ◽  
Arkadiy Finn
Keyword(s):  
Balloon Dilatation ◽  
Young Female ◽  
Rigid Bronchoscopy ◽  
Pulmonary Function Testing ◽  
Subglottic Stenosis ◽  
Productive Cough ◽  
Shortness Of Breath ◽  
History Of ◽  
One Year ◽  
Function Testing

A previously healthy 30-year-old woman presented with 3 years of progressive shortness of breath and audible wheezing. One year prior to presentation, she developed a chronic non-productive cough. Pulmonary function testing revealed flattened inspiratory and expiratory peaks, characteristic of an extrathoracic fixed tracheal obstruction. Bronchoscopy confirmed subglottic stenosis (SGS). She had no history of intubation, tracheostomy or evidence of a systemic inflammatory illness. She was diagnosed with idiopathic SGS and referred for rigid bronchoscopy with balloon dilatation resulting in improvement in her symptoms.

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