scholarly journals The histological patterns of inflammation in erythroderma

2016 ◽  
pp. 65-73
Author(s):  
D. Zaslavsky ◽  
I. Chuprov ◽  
R. Nasyrov ◽  
A. Sidikov ◽  
M. Maksimova ◽  
...  
Keyword(s):  
Clinical Diagnosis ◽  
Medical Condition ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Clinical Information ◽  
Final Diagnosis ◽  
The Body ◽  
Diagnostic Process ◽  
Correct Judgment ◽  
Histopathology Examination

Background: Erythroderma is a serious medical condition characterized by inflamed red skin, involving over 90% of the body. It can be a common presentation of different diseases, therefore clinical diagnosis can be problematic. Controversial data are reported regarding the diagnostic value of histological examination in erythroderma subjects. Methods: A retrospective study on histological skin specimens of patients admitted with a clinical diagnosis of erythroderma at the Department of Pathological anatomy with course of department of forensic medicine of State Pediatric Medical University, Saint-Petersburg, and derpatment of dermatolopathology of University clinic of Bonn from 2001 to 2014, was performed. Histopathology examination was performed in each case by a pathologist with a special interest in the skin disease who was blind to any clinical information as well as to final diagnosis. Results: Blinded histopathology examination alone was able to give the correct diagnosis in 61% (n=50/82) of cases when compared to final diagnosis. A diagnosis of psoriasis was made in 23.2% (n=19/82) of subjects, spongiotic dermatitis/eczema in 20.7% (n=17/82), mycosis fungoides in 8.5% (n=7/82) and drug eruption in 8.5%; histological diagnosis was inconclusive or not matching the final diagnosis when available in the remaining 39.1% of cases (n=32/82). Conclusion: Erythroderma remains a condition difficult to study and treat. We showed that a correct judgment about its cause can be based on objective histopathological criteria in up to 60% of cases. More studies are needed to try to find out further histological and/or immunohistochemical and molecular-genetic markers which could help the clinician in erythroderma aetiololgy diagnostic process.

scholarly journals Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

Accuracy of Clinical Diagnosis in Parkinsonism — A Prospective Study

1991 ◽  
Vol 18 (3) ◽  
pp. 275-278 ◽  
Author(s):  
A.H. Rajput ◽  
B. Rozdilsky ◽  
Alex Rajput
Keyword(s):  
Clinical Diagnosis ◽  
Correct Diagnosis ◽  
Neurofibrillary Tangle ◽  
Neuronal Loss ◽  
Final Diagnosis ◽  
Epidemiological Studies ◽  
Olivopontocerebellar Atrophy ◽  
Lewy Body Pathology ◽  
A Prospective Study ◽  
Critical Literature

ABSTRACT:Clinical diagnosis of Parkinson's syndrome (PS) is reasonably easy in most cases but the distinction between different variants of PS may be difficult in early cases. The correct diagnosis is not only important for counselling and management of patients but also in conducting pharmacological and epidemiological studies. There is very little critical literature on the pathological verification of the clinical diagnosis in PS. We report our 22 year experience to address that issue. Between 1968 and 1990, 65 PS patients came to autopsy. Complete data are available in 59 (M- 50, F-19) cases. The initial diagnosis made by a qualified neurologist was idiopathic Parkinson's disease (IPD) in 43 cases. Of those 28 (65%) had Lewy body pathology. After a mean duration of 12 years the final diagnosis was IPD in 41 cases which was confirmed in 31 (76%). The IPD could not be clinically distinguished from cases with severe substantia nigra neuronal loss without inclusions or from those with neurofibrillary tangle inclusions and neuronal loss at the anatomical sites typically involved in IPD. All progressive supra-nuclear palsy, olivopontocerebellar atrophy, Jakob-Creutzfeldt's disease and the majority of the multiple system atrophy cases were diagnosed correctly during life. The correct clinical diagnosis in most non-IPD variants of PS was possible within 5 years of onset (range: 2 months to 18 years). We recommend that studies aimed at including only the IPD cases restrict the enrollment to those cases that have had PS motor manifestations for five years or longer duration.

scholarly journals Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Sickle Cell Anemia

2021 ◽  
Vol 8 ◽  
Author(s):  
Lisa M. Shook ◽  
Deidra Haygood ◽  
Charles T. Quinn
Keyword(s):  
Genetic Testing ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
The United States ◽  
Molecular Genetic Testing ◽  
Benign Condition

Sickle cell disease (SCD) is a group of related yet genetically complex hemoglobinopathies. Universal newborn screening (NBS) for SCD is performed in the United States and many other nations. Classical, protein-based laboratory methods are often adequate for the diagnosis of SCD but have specific limitations in the context of NBS. A particular challenge is the differentiation of sickle cell anemia (SCA) from the benign condition, compound heterozygosity for HbS and gene-deletion hereditary persistence of fetal hemoglobin (HbS/HPFH). We describe a sequential cohort of 44 newborns identified over 4.5 years who had molecular genetic testing incorporated into NBS for presumed SCA (an “FS” pattern). The final diagnosis was something other than SCA in six newborns (12%). Three (7%) had HbS/HPFH. All had a final, correct diagnosis at the time of their first scheduled clinic visit in our center (median 8 weeks of age). None received initial counseling for an incorrect diagnosis. In summary, genetic testing as a component of NBS for SCD is necessary to provide correct genetic counseling and education for all newborns' families at their first visit to a sickle cell center. Genetic testing also permits the use of early, pre-symptomatic hydroxyurea therapy by preventing infants with HbS/HPFH from receiving unnecessary therapy. We argue that genetic testing should be incorporated into contemporary NBS for SCD.

The variability in how physicians think: a casebased diagnostic simulation exercise

Diagnosis ◽  
2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Ashwin Gupta ◽  
Martha Quinn ◽  
Sanjay Saint ◽  
Richard Lewis ◽  
Karen E. Fowler ◽  
...  
Keyword(s):  
Correct Diagnosis ◽  
Hospital Medicine ◽  
Final Diagnosis ◽  
Differential Diagnoses ◽  
Diagnostic Process ◽  
Academic Medical ◽  
Interview Format ◽  
Life Threatening ◽  
Diagnostic Simulation ◽  
Diagnostic Thinking

AbstractObjectivesLittle is known about how physician diagnostic thinking unfolds over time when evaluating patients. We designed a case-based simulation to understand how physicians reason, create differential diagnoses, and employ strategies to achieve a correct diagnosis.MethodsBetween June 2017 and August 2018, hospital medicine physicians at two academic medical centers were presented a standardized case of a patient presenting with chest pain who was ultimately diagnosed with herpes zoster using an interview format. Case information was presented in predetermined aliquots where participants were then asked to think-aloud, describing their thoughts and differential diagnoses given the data available. At the conclusion of the interview, participants were asked questions about their diagnostic process. Interviews were recorded, transcribed, and content analysis was conducted to identify key themes related to the diagnostic thinking process.ResultsSixteen hospital medicine physicians (nine men, seven women) participated in interviews and four obtained the correct final diagnosis (one man, three women). Participants had an average of nine years of experience. Overall, substantial heterogeneity in both the differential diagnoses and clinical reasoning among participants was observed. Those achieving the correct diagnosis utilized systems-based or anatomic approaches when forming their initial differential diagnoses, rather than focusing on life-threatening diagnoses alone. Evidence of cognitive bias was common; those with the correct diagnosis more often applied debiasing strategies than those with the incorrect final diagnosis.ConclusionsHeterogeneity in diagnostic evaluation appears to be common and may indicate faulty data processing. Structured approaches and debiasing strategies appear helpful in promoting diagnostic accuracy.

scholarly journals Arthritis

2021 ◽  
pp. 149-168
Author(s):  
Andrew J. Grainger ◽  
Charles S. Resnik
Keyword(s):  
Correct Diagnosis ◽  
Clinical Information ◽  
The Body ◽  
Joint Disease ◽  
Joint Involvement ◽  
Imaging Features ◽  
Cross Sectional ◽  
Conventional Radiograph ◽  
Cross Sectional Imaging ◽  
Hands And Feet

AbstractImaging plays an important role in the diagnosis and management of joint disease. However, to accurately diagnose the underlying cause of a patient’s arthritis, consideration must be given to the clinical information available as well as to the imaging features of the disease. The pattern of joint involvement in each case is particularly important, with consideration of the number of joints involved, whether or not the joints are affected symmetrically on both sides of the body, and which specific joints are affected. In cases of peripheral arthritis involving the small joints of the hands and feet, the distribution of joint disease detected on the radiograph is often as important in making the correct diagnosis as the radiographic features of the disease.While cross-sectional imaging modalities have an important role to play, the conventional radiograph remains fundamental to the diagnosis of joint disease and is commonly the first imaging investigation undertaken.

Symptom- diagnostic dilema

2011 ◽  
Vol 26 (S2) ◽  
pp. 1201-1201
Author(s):  
T. Grahovac ◽  
K. Ružić ◽  
A. Pavešić Radonja ◽  
R. Knez ◽  
E. Dadić-Hero
Keyword(s):  
Correct Diagnosis ◽  
Daily Practice ◽  
Comprehensive Analysis ◽  
The Body ◽  
Diagnostic Process ◽  
Subjective Feeling ◽  
Diagnostic Dilemma ◽  
Clinical Interviews ◽  
Body And Soul ◽  
Leading Symptom

IntroductionSymptom (from Greek symptoma “anything that has befallen one”) is an each new manifestation by which some disorder is expressed. For the physician, it is a guide to diagnosis itself, and for the patient it is a signal which warns of new conditions of the body and soul or of a disorder.ObjectivesMental disorders are most commonly presented by a group of symptoms, among which the patients often can’t point out the leading one. Anxiety as a symptom can occur in a number of psychiatric entities and it can stimulate differential diagnostic dilemma in daily practice. We will show a 26-year female in which the internal anxiety is the main symptom.AimTo underlined the importance of taking in to account a leading symptom of the disease in the way of establishing the correct diagnosis.MethodsThe psychiatric and psychotherapeutic interviews were performed together with a clinical assessment of mental status and structured clinical interviews (SCID I and SCID II), EEG and psychological testing.Results/conclusionInternal discomfort is a subjective feeling, respectively a symptom which the patient in this case continuously underlined, and which guided us (along with a comprehensive analysis) to a clear diagnosis. Following the choosing of an effective psycho-pharmacological combination, and with the goal of reducing a leading symptom, according to enlarged diagnostic process, we decided to diagnose the Schizoaffective disorders (F 25.2).

scholarly journals Umbilicated Hairy Auricular Mass Mimicking Accessory Tragus

2020 ◽  
Vol 24 (2) ◽  
pp. 99-102
Author(s):  
Jeong Hwan Choi
Keyword(s):  
Clinical Diagnosis ◽  
Epidermoid Cyst ◽  
Wide Local Excision ◽  
English Literature ◽  
Correct Diagnosis ◽  
Final Diagnosis ◽  
Left Auricle ◽  
Adnexal Tumor

Trichofolliculoma (TF) is a follicular hamartoma in which hairs protruding out of single orifice. To the best of my knowledge, only two auricular TF has been reported in the English literature. Moreover, clinically TF have been described to mimic malignancy. I present a case of an adult female with mass at the intertragal notch of the left auricle for several years. The clinical diagnosis was thought to be epidermoid cyst, accessory tragus, and other benign skin adnexal tumor. To prevent recurrence, the wide local excision of the mass was performed. The final diagnosis of TF was made. No recurrence was noted during the follow-up of 1 year. It is important for otologists to be familiar with the clinical and pathologic characterization of TF, to make the correct diagnosis.

scholarly journals A large retroperitoneal lipoblastoma as an incidental finding: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Elena Gerhard-Hartmann ◽  
Verena Wiegering ◽  
Clemens Benoit ◽  
Thomas Meyer ◽  
Andreas Rosenwald ◽  
...  
Keyword(s):  
Incidental Finding ◽  
Correct Diagnosis ◽  
Clear Cell Sarcoma ◽  
Final Diagnosis ◽  
The Body ◽  
Differential Diagnoses ◽  
Molecular Diagnostic ◽  
Mesenchymal Neoplasm ◽  
Retroperitoneal Tumors ◽  
The Right

Abstract Background Lipoblastoma is a rare benign mesenchymal neoplasm of infancy that most commonly occurs on the extremities and trunk but can arise at variable sites of the body. Retroperitoneal lipoblastomas are particularly rare but can grow to enormous size, and preoperative diagnosis is difficult with diverse, mostly malignant differential diagnoses that would lead to aggressive therapy. Since lipoblastoma is a benign tumor that has an excellent prognosis after resection, correct diagnosis is crucial. Case presentation A case of a large retroperitoneal tumor of a 24-month old infant that was clinically suspicious of a malignant tumor is presented. Due to proximity to the right kidney, clinically most probably a nephroblastoma or clear cell sarcoma of the kidney was suspected. Radiological findings were ambiguous. Therefore, the mass was biopsied, and histology revealed an adipocytic lesion. Although mostly composed of mature adipocytes, in view of the age of the patient, the differential diagnosis of a (maturing) lipoblastoma was raised, which was supported by molecular analysis demonstrating a HAS2-PLAG1 fusion. The tumor was completely resected, and further histopathological workup led to the final diagnosis of a 13 cm large retroperitoneal maturing lipoblastoma. The child recovered promptly from surgery and showed no evidence of recurrence so far. Conclusion Although rare, lipoblastoma should be included in the differential diagnoses of retroperitoneal tumors in infants and children, and molecular diagnostic approaches could be a helpful diagnostic adjunct in challenging cases.

Cholescintigraphy versus Infusion Cholecystography in Acute Cholecystitis

1990 ◽  
Vol 29 (02) ◽  
pp. 51-53
Author(s):  
G. Edlund ◽  
V. Kempi
Keyword(s):  
Acute Cholecystitis ◽  
Clinical Diagnosis ◽  
Random Order ◽  
Final Diagnosis

Patients with the clinical diagnosis of acute cholecystitis were studied with intravenous cholecystography and cholescintigraphy. The two examinations alternated in a random order. The final diagnosis was ascertained by surgery in most patients. Either cholecystography or cholescintigraphy could be used in the diagnostics of patients with suspected acute cholecystitis. The methods have about the same accuracy. However, cholescintigraphy is performed more easily and more rapidly than intravenous cholecystography.

F.N.A.C. AS DIAGNOSTIC TOOL OF PAROTID TUMORS AND ASSOCIATED PITFALLS IN CORRELATION WITH HISTOPATHOLOGY

2020 ◽  
Vol 4 (1) ◽  
Author(s):  
Bhawana Pant ◽  
Sanjay Gaur ◽  
Prabhat Pant
Keyword(s):  
Preoperative Diagnosis ◽  
Histopathological Examination ◽  
Clinical Information ◽  
Final Diagnosis ◽  
Needle Aspiration ◽  
Histopathological Diagnosis ◽  
Cytological Diagnosis ◽  
Tertiary Referral Centre ◽  
Clear Cut ◽  
Parotid Tumors

F.NA.C has been used for ages as a safe and economical tool for fast preoperative diagnosis of parotid tumors. It has certain pitfall which sometimes leads to misdiagnosis and consequently it may have affect on treatment of the tumors. Keeping in view of the diverse classification of parotid tumors’ information from cytology should be combined with radiology as well as clinical diagnosis. Aim: To discuss some cases where there was discrepancy between cytological diagnosis and histopathological result and also suggest measures to improve the efficacy of F.N.A.C. Material and methods: The study includes 50 cases of parotid tumours who presented to the  department of ENT at Government medical college Haldwani which is a tertiary referral centre during 2009 to 2016. Only adult patients were included and inflammatory swelling were excluded from the study. All patients evaluated  Contrast enhanced computerized tomography(CECT) and  Magnetic resonance imaging (MRI) followed by Fine needle aspiration cytology .Preoperative diagnosis was made upon the findings of the above investigations and different types of  parotid surgeries  were done. . Final diagnosis was made on  histopathological  examination. Result :The most common tumour  came out to be pleomorphic adenoma (23 cases-46%) followed by mucoepidermoid carcinoma(12cases-24%). In ten  cases there was no clear cut  association between cytological diagnosis and final histopathological diagnosis. Conclusion: FNAC is highly sensitive and specific technique for diagnosis of many salivary gland swellings. FNAC can be used preoperatively to avoid unnecessary surgery and biopsy. Details of clinical information and radiologic features may help the pathologist to arrive at the appropriate diagnosis and reduce false interpretation. Pitfalls may also occur with improper technique of FNAC which can be overcome by proper caution.

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