scholarly journals Observations on Four Cases of Brooke–Spiegler Syndrome

Reports ◽  
2020 ◽  
Vol 3 (4) ◽  
pp. 28
Author(s):  
Mihaela Leventer ◽  
Casandra Coltoiu ◽  
Alexandra Zota ◽  
Tiberiu Tebeica ◽  
Carmen Lisievici ◽  
...  
Keyword(s):  
Co2 Laser ◽  
Surgical Techniques ◽  
Viable Option ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
Multiple Neoplasms ◽  
History Of ◽  
Adnexal Tumors ◽  
Tumor Debulking ◽  
Variable Penetrance

Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

scholarly journals Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Jay Lodhia ◽  
David Msuya ◽  
Abdallah Msemo ◽  
Huda Akrabi ◽  
Patrick Amsi ◽  
...  
Keyword(s):  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Early Screening ◽  
Autosomal Dominant Disorder ◽  
Polyposis Syndrome ◽  
Case Presentation ◽  
Post Surgery ◽  
Northern Tanzania ◽  
History Of ◽  
Specific Standard

Introduction. Juvenile polyposis syndrome is a rare autosomal dominant disorder in children characterized by multiple polyps in the gastrointestinal tract. A variety of clinical features manifest, including prolapse of a polyp or entire rectum, gastrointestinal bleeding, anaemia, and intussusception. This condition if left unmanaged promptly leads to fatal complications including the development of cancer of the bowel. Case Presentation. A 13-year-old girl with a history of mass protrusion per anus associated with bloody diarrhea. Colonoscopy showed multiple polyps in her large bowel. She underwent total colectomy with ileorectal anastomosis and did clinically well post surgery with no complications. Conclusion. Juvenile polyposis syndrome is an inherited condition with significant morbidity and a high risk of colon malignancy. It is important for early screening and diagnosis and hence management in its early stages as there are no specific standard guidelines for children.

scholarly journals Acral Lentiginous melanoma arising in Brauer-Buschke-Fischer plantar keratoderma

2021 ◽  
Vol 6 (2) ◽  
Keyword(s):  
Autosomal Dominant ◽  
Type I ◽  
Pathophysiological Mechanism ◽  
Palmoplantar Keratoderma ◽  
Acral Lentiginous Melanoma ◽  
Case Presentation ◽  
Rare Association ◽  
History Of ◽  
The Right ◽  
Variable Penetrance

Type I Punctuate palmoplantar keratoderma or Brauer-Buschke-Fischer keratoderma (BBFK) is a rare autosomal dominant keratinisation disorder with variable penetrance. \r\n The emergence of acral lentiginous melanoma on palmoplantar keratoderma is rarely reported. Herein, we present a case of a 53-year-old woman with a history of BBFK in both palms and soles, who developed an acral lentiginous melanoma. The clinical examination showed multiple tiny hyperkeratotic and translucent papules on both palms and soles. On the right sole, she developed an acral lentiginous melanoma over a hyperkeratoic area. This case presentation illustrates a rare association of malignant melanoma and BBFK and seeks to enhance further investigations to determine its pathophysiological mechanism.\r\n

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

An Obscure Colon Dilatation and its Underlying Cause: Case Report and Literature Review

2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  
Keyword(s):  
Case Report ◽  
Sigmoid Colon ◽  
Immunohistochemical Staining ◽  
Late Onset ◽  
Hirschsprung Disease ◽  
Endoscopic Examination ◽  
Case Presentation ◽  
Idiopathic Megacolon ◽  
History Of ◽  
Cells Of Cajal

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.

Pulmonary Rehabilitation After Lobectomy On Pulmonary Aspergilloma: Case Report

2019 ◽  
pp. 35-41
Author(s):  
Andwi Setiawan Kokok ◽  
Selly Christina Anggoro ◽  
Siti Chandra Widjanantie
Keyword(s):  
Pulmonary Rehabilitation ◽  
Peak Flow ◽  
Case Presentation ◽  
Rehabilitation Programs ◽  
Abnormal Chest ◽  
History Of ◽  
Postural Correction ◽  
Chronic Pulmonary Aspergillosis ◽  
Pulmonary Aspergilloma ◽  
Breathing Retraining

Introduction: Complete resection of aspergilloma in chronic pulmonary aspergillosis (CPA), may has several health problem after surgery berupa sesak napas, batuk yang tidak efektif. Methods: A case presentation of 45 years old woman, after lobectomy on right upper of lung due to aspergilloma, with history of cough and haemoptysis for 3 months. Pulmonary Rehabilitation were breathing retraining exercise (BE), mobilization technique (MT), chest mobility exercise (CM), active cycle breathing technique (ACBT), postural correction exercise (PC) for three weeks. Results: There were dyspnea, peak flow rate (PFR:60-70-60), peak cough flow (PCF: 70-90-60 L/m), and abnormal chest expansion (CE: 2.5 – 3 – 2) cm. After three weeks of Pulmonary Rehabilitation, there were no dyspnea, increased the PCF: 193L/m, and CE: 2.5-4 -3. Conclusion: Pulmonary Rehabilitation programs for three weeks were relieved dyspnea, increased cough capacity and CE.

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 Faecopneumothorax due to missing diaphragmatic hernia: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Resul Nusretoğlu ◽  
Yunus Dönder
Keyword(s):  
Computed Tomography ◽  
Diaphragmatic Hernia ◽  
Colon Resection ◽  
Emergency Laparotomy ◽  
Hernia Sac ◽  
Case Presentation ◽  
Abdominal Tenderness ◽  
History Of ◽  
Diaphragmatic Hernias ◽  
Tomography Scan

Abstract Background Diaphragmatic hernias may occur as either congenital or acquired. The most important cause of acquired diaphragmatic hernias is trauma, and the trauma can be due to blunt or penetrating injury. Diaphragmatic hernia may rarely be seen after thoracoabdominal trauma. Case presentation A 54-year-old Turkish male patient admitted to the emergency department with abdominal pain and dyspnea ongoing for 2 days. He had general abdominal tenderness in all quadrants. He had a history of a stabbing incident in his left subcostal region 3 months ago without any pathological findings in thoracoabdominal computed tomography scan. New thoracoabdominal computed tomography showed a diaphragmatic hernia and fluid in the hernia sac. Due to respiratory distress and general abdominal tenderness, the decision to perform an emergency laparotomy was made. There was a 6 cm defect in the diaphragm. There were also necrotic fluids and stool in the hernia sac in the thorax colon resection, and an anastomosis was performed. The defect in the diaphragm was sutured. The oral regimen was started, and when it was tolerated, the regimen was gradually increased. The patient was discharged on the postoperative 11th day. Conclusions Acquired diaphragmatic hernia may be asymptomatic or may present with complications leading to sepsis. In this report, acquired diaphragmatic hernia and associated colonic perforation of a patient with a history of stab wounds was presented.

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 Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan
Keyword(s):  
Case Reports ◽  
Case Presentation ◽  
Open Adrenalectomy ◽  
Large Size ◽  
History Of ◽  
Loin Pain ◽  
Benign Tumours ◽  
Spontaneous Haemorrhage ◽  
Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

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