scholarly journals Oral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Fatima zahra Elfatoiki ◽  
Sophia Capatas ◽  
Hayat Dahbi Skali ◽  
Fouzia Hali ◽  
Hicham Attar ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Oral Mucosa ◽  
Skin Disorder ◽  
Autosomal Dominant ◽  
Oral Candidiasis ◽  
Histological Findings ◽  
Diffuse Plaques ◽  
White Sponge Nevus

White sponge nevus is an autosomal dominant skin disorder characterized by white, irregular, diffuse plaques mainly affecting the oral mucosa. Histological findings of white sponge nevus are characteristic but not pathognomonic. We report a case of an oral white sponge nevus in a 6-year-old girl, which poses a problem in differential diagnosis with oral candidiasis. No treatment was performed because of the benign and asymptomatic nature of the lesions.

scholarly journals Two white sponge nevus in a single family: case report

2020 ◽  
Vol 27 (1) ◽  
pp. 5
Author(s):  
Chloé Pasquier ◽  
Sophie Tisné-Versailles ◽  
Mathilde Fénélon ◽  
Sylvain Catros ◽  
Jean-Christophe Fricain
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Histological Examination ◽  
Oral Mucosa ◽  
Oral Surgery ◽  
Young Patients ◽  
Single Family ◽  
Adjacent Mucosa ◽  
Family Case ◽  
White Sponge Nevus

Introduction: White Sponge Nevus (WSN) is a leukokeratosis characterized by white lesions of the oral mucosa. These lesions are bilateral, thickened and raised compared to the adjacent mucosa. Their aspect are folded and spongy. It is a benign disorder with asymptomatics lesions which often appear during the childhood or the adolescence. The interest of this case report is that the diagnostic of WSN had been established directly, thanks to the presence of the patient's father. Observation: A twelve years old patient was examined in the unity of the oral mucosa pathology and oro-facials pain, of the oral surgery service of Bordeaux hospital (CHU de Bordeaux, France). He presented typical WSN lesions. His father was examined and presented the same lesions. Discussion: Diagnostic of WSN is mainly a clinical examination. There are a lot of differential diagnosis, and leukoplakia is the principal. In case of doubt about the diagnostic, a histological examination can be done. Nowadays, there is no consensus about the therapeutic. But the lesions are mainly asymptomatics, so any treatment has to be planed. Conclusion: An early WSN diagnosis avoids to patients a non adapted treatment and reassures young patients and their parents.

Current approaches to the diagnosis and treatment of white sponge nevus

2015 ◽  
Vol 17 ◽  
Author(s):  
Wenping Cai ◽  
Beizhan Jiang ◽  
Fang Yu ◽  
Jianhua Yang ◽  
Zhenghu Chen ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Animal Models ◽  
Oral Mucosa ◽  
Genetic Disease ◽  
Recent Progress ◽  
Autosomal Dominant ◽  
Future Directions ◽  
Keratin 13 ◽  
Near Future ◽  
White Sponge Nevus

White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

scholarly journals PREVENTION OF CANDIDIASIS IN PATIENTS USING REMOVABLE DENTURES

2022 ◽  
Author(s):  
Andrey SEVBITOV ◽  
◽  
Aleksey DOROFEEV ◽  
Sergey MIRONOV ◽  
Samer AL-KHOURY ◽  
...  
Keyword(s):  
Oral Cavity ◽  
Oral Mucosa ◽  
Oral Candidiasis ◽  
Age Groups ◽  
Local Immunity ◽  
Thermal Insulating ◽  
Removable Plate ◽  
Orthopedic Care ◽  
Oral Tissue ◽  
Receptor Apparatus

Despite innovations in orthopedic dentistry, removable dentures belong to the most popular orthopedic care category. Removable dentures are combined stimuli that affect the mucous membrane and neuro-receptor apparatus. Acrylic plastic prostheses, widely used in prosthetic dentistry, have a negative side mechanical, chemical-toxic, sensitizing, and thermal insulating effect on oral tissue and prosthetic impression area. This is often complicated by a violation of the biocenosis of the oral cavity, the growth of pathogenic microflora that releases toxins, especially an increase in the number of yeast colonies that irritate the oral mucosa and prosthetic stomatitis. It was observed 100 patients with oral candidiasis of various age groups from 45 to 65 years. Of these, 60 patients with removable plate prostheses; 40 patients with partially removable prostheses. Chronic forms of candidiasis were diagnosed in 40 patients and with exacerbation of chronic forms of candidiasis in 60 people. The number of untreated carious cavities and poor hygienic condition of the oral cavity directly affects the severity of candidiasis. Acute forms of candidiasis were observed mainly in patients with high DMF and PMA indices. The severity of candidiasis depends on the degree and duration of wearing dentures and hygienic conditions - the most severe forms of invasive candidiasis were observed in the presence of removable plate prostheses, the complete absence of teeth, and the use of a prosthesis for more than 10-15 years. A combined lesion of the oral mucosa and the red border of the lips was observed mainly in patients older than 60 years. The presence of candidiasis in the oral cavity in patients with removable plate prostheses leads to a statistically significant change in the indicators of local immunity of the oral cavity: an increase in the concentration of serum IgG and IgA and the values of the coefficient of the balance of local immunity factors.

Differential diagnosis of solid renal tumors by MRI. Comparison ofIn Situ relaxation times measured with a 0.1 T imager and histological findings

1993 ◽  
Vol 6 (5) ◽  
pp. 329-332
Author(s):  
Masayuki Takeda ◽  
Yasushi Katayama ◽  
Toshiki Tsutsui ◽  
Takeshi Komeyama ◽  
Takaki Mizusawa ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Relaxation Times ◽  
Renal Tumors ◽  
Histological Findings

When sleep-related hypermotor epilepsy (SHE) met Charles Darwin and Francis Galton

Neurology ◽  
2017 ◽  
Vol 89 (5) ◽  
pp. 502-505 ◽  
Author(s):  
Liborio Parrino ◽  
Giovanni Pavesi
Keyword(s):  
Differential Diagnosis ◽  
Genetic Factors ◽  
Charles Darwin ◽  
Autosomal Dominant ◽  
Behavior Disorder ◽  
Rem Behavior Disorder ◽  
Genetic Transmission ◽  
Francis Galton ◽  
Expression Of Emotions ◽  
Autosomal Inheritance

Sleep-related hypermotor epilepsy (SHE) is characterized by short-lasting seizures patterned by repetitive and stereotyped motor events in the same person. In autosomal dominant SHE, genetic factors play a well-known key role. In The Expression of Emotions in Man and Animals, Charles Darwin quotes a plausible example of SHE illustrated by his cousin Sir Francis Galton: “the gentleman…lay fast asleep on his back in bed, raising his right arm slowly in front of his face, up to his forehead, and then dropping it with a jerk, so that the wrist fell heavily on the bridge of his nose. The trick did not occur every night, but occasionally, and was independent of any ascertained cause. Sometimes it was repeated incessantly for an hour or more.” Similar manifestations during sleep occurred also in the patient's son and granddaughter, suggesting an autosomal inheritance without sex relationship. Differential diagnosis with REM behavior disorder and other parasomnias is discussed. To our knowledge, this could be the first description of a stereotyped SHE pattern with genetic transmission.

Autosomal Dominant Optic Atrophy

2019 ◽  
pp. 29-34
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak
Keyword(s):  
Differential Diagnosis ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Spastic Paraparesis ◽  
Progressive External Ophthalmoplegia ◽  
Management Approach ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
History Of

There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural history of autosomal dominant optic atrophy. We list other deficits that can occur in up to 20% of patients with this condition, which can include sensorineural hearing loss, ataxia, myopathy, peripheral neuropathy, spastic paraparesis, and chronic progressive external ophthalmoplegia. Lastly, we discuss the evaluation and management approach for autosomal dominant optic atrophy.

Malignant Vascular Tumors of the Liver in Adults

2018 ◽  
Vol 39 (01) ◽  
pp. 001-012 ◽  
Author(s):  
Jordi Rimola ◽  
Venancio Alves
Keyword(s):  
Differential Diagnosis ◽  
Kaposi Sarcoma ◽  
Epithelioid Hemangioendothelioma ◽  
Vascular Tumors ◽  
Molecular Pathways ◽  
High Grade ◽  
Histological Findings ◽  
Clinical Behavior ◽  
Molecular Assessment ◽  
Tumors Of The Liver

AbstractHepatic angiosarcoma and epithelioid hemangioendothelioma (EHE) might be clinically considered a spectrum since, although more frequently presenting indolent behavior, EHE occasionally evolves to high-grade neoplasms. However, in most circumstances, pathological and immunohistochemical patterns define this differential diagnosis. More recently, molecular pathways for angiosarcoma and for EHE from other organs and from soft tissue have been proved different, paving the way for future morpho-molecular assessment of their hepatic counterpart. The frequency of liver involvement by Kaposi sarcoma in HIV-infected patients is lower nowadays. Histological findings and immunostaining for HHV-8 Ag are characteristic. Hepatic small vessel neoplasms have been recently recognized as important mimickers of angiosarcoma. The criteria for this differential diagnosis and the clinical behavior, up to now considered favorable, must be further studied.

Hereditary angioedema: Differential diagnosis, diagnostic tests, and family screening

2020 ◽  
Vol 41 (6) ◽  
pp. S22-S25 ◽  
Author(s):  
Michael E. Manning
Keyword(s):  
Differential Diagnosis ◽  
Hereditary Angioedema ◽  
Diagnostic Tests ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Genetic Mutation ◽  
The Body ◽  
Laboratory Evaluation ◽  
Family Screening ◽  
Common Causes

Hereditary angioedema is a rare, autosomal dominant genetic disorder that leads to sporadic episodes of swelling, which can affect any part of the body. With a prevalence of 1 in 10,000 to 1 in 50,000, there are other, more common causes of angioedema. Differentiating between bradykinin-mediated and histamine-mediated causes of swelling remains a major challenge. It is critical to develop an appropriate differential diagnosis, work through the various conditions, and obtain the pertinent laboratory evaluation to rule in or out the proposed diagnosis. As an autosomal dominant genetic disorder, there is a 50% chance with each pregnancy of passing on the genetic mutation in the SERPING1 gene. This review addressed the differential diagnosis to consider, the appropriate laboratory evaluation, and the importance of family screening.

Inherited Macular Dystrophies and Differential Diagnostics

Medicina ◽  
2012 ◽  
Vol 48 (9) ◽  
pp. 72 ◽  
Author(s):  
Rasa Liutkevičienė ◽  
Vaiva Lesauskaitė ◽  
Virginija Ašmonienė ◽  
Arvydas Gelžinis ◽  
Dalia Žaliūnienė ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Visual Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Genetic Research ◽  
Gene Mutations ◽  
Disease Spread ◽  
Differential Diagnostics

The inherited macular dystrophies are characterized by different grade central visual loss and different character macula atrophy, because of retinal pigment epithelium lesion. The cause of photoreceptors degeneration is still not known. In this article, we review subjective and objective ophthalmological examines essential to diagnosis and differential diagnosis of inherited autosomal dominant and autosomal recessive macular dystrophies. It is known seven gene mutations (ABCA4, ELOVL4, PROML1, VMD2, Peripherin/RDS, TIMP3, XLRS), which may cause inherited macular dystrophies development. Inheritance type of inherited macular dystrophies, prevalence, beginning of disease, spread of the disease between female and male, clinic, electroretinography, electrooculography, differential diagnosis, genetic research and prognosis are also reviewed.

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