scholarly journals Pachyonychia Congenita - Can a Specific Phenotype be a Clue to a Genetic Defect? - a Case Report and Literature Review

2017 ◽  
Vol 9 (3) ◽  
pp. 119-123
Author(s):  
Jovan Lalošević ◽  
Mirjana Gajić-Veljić ◽  
Jelena Stojković-Filipović ◽  
Martina Bosić ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Genetic Defect ◽  
New Classification ◽  
Nail Dystrophy ◽  
Clinical Presentations ◽  
Keratin Proteins ◽  
Pachyonychia Congenita ◽  
Mutation Type

Abstract Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterized by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. These pathological clinical features are resulting from mutations in keratin proteins including KRT6A, KRT6B, KRT6C, KRT16, and KRT17. We present a 6-year-old girl with hypertrophic nail dystrophy, follicular hyperkeratosis, circumscribed plantar keratoderma and oral leukokeratosis. The features were consistent with the diagnosis of PC. The patient has been registered in the International Pachyonychia Congenita Research Registry (IPCRR) and is waiting for a detailed genetic analysis. The IPCRR has contributed to publication of numerous papers which emphasized the importance of the mutation type affecting various clinical presentations of PC. Based on recent data, a new classification system has been developed for PC, and it is gradually replacing the earlier classifications. It is based almost exclusively on the mutated genes. In this report we have raised the hypothesis that distinctive clinical features may be highly suggestive of a specific keratin mutation.

scholarly journals Oral and Dental Changes of Dyskeratosis Congenita: A Case Report with Literature Review

2018 ◽  
Vol 9 (1-2) ◽  
pp. 20-23 ◽  
Author(s):  
Gozde Serindere
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Literature Review ◽  
Aggressive Periodontitis ◽  
Dyskeratosis Congenita ◽  
Tooth Decay ◽  
Nail Dystrophy ◽  
Uncommon Disease ◽  
Missing Tooth ◽  
Enamel Layer

Dyskeratosis congenita (DC) is an uncommon disease characterized by nail dystrophy, cutaneous hyperpigmentation, leukoplakia, pancytopenia, and malignant transformation. There can be some oral and dental changes such as oral leukoplakia, increase in tooth decay, hypodontia, thinning of enamel layer, aggressive periodontitis, intraoral brown pigmentation, missing tooth, taurodontism, and blunted roots. Most of cases belong to dermatology or pediatrics department. There are few reports about dentistry. The aim of this report is to lay emphasis on this fatal syndrome among dentists about the multisystem findings and oro-dental changes. Thus, this information may aid dentists in early diagnosis. A case of 21-year-old male diagnosed with DC is reported.

Pink Spot – Literature Review and Case Report

2016 ◽  
Vol 40 (5) ◽  
pp. 353-355 ◽  
Author(s):  
Roy Petel ◽  
Anna Fuks
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Literature Review ◽  
Diagnosis And Treatment ◽  
Rare Occurrence ◽  
Central Incisor ◽  
Successful Management ◽  
Pathologic Process ◽  
Clinical Presentations ◽  
Subsequent Loss

Background: Pink spots in teeth were first described by Mummery in 1920, and were related to resorption. Resorption is a pathologic process that often eludes the clinician with its varied etiologic factors and diverse clinical presentations. Resorption can be generally classified as internal and external resorption. Internal resorption has been described as a rare occurrence as compared to external resorption. Case report: This article describes a pink spot that was diagnosed as a progressing resorption process. Early diagnosis enabled a successful management of the lesion. Conclusion: Early diagnosis and treatment of an internal resorption, clinically seen as a pink spot, in a primary central incisor may prevent its fast progress and subsequent loss.

scholarly journals UBA1 and DNMT3A Mutations in VEXAS Syndrome. A Case Report and Literature Review

2021 ◽  
Author(s):  
Farah Shaukat ◽  
Melissa Hart ◽  
Timothy Burns ◽  
Pankaj Bansal
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Clinical Features ◽  
Somatic Mutation ◽  
Review Of Literature ◽  
Unique Case ◽  
Hematological Abnormalities ◽  
Autoinflammatory Condition

Abstract VEXAS syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the UBA1 gene. It often coexists with MDS which can occur due to DNMT3A mutation. These patients, predominantly males, present after the fifth decade of life with unique systemic inflammatory clinical features and have hematological abnormalities and vacuolated precursor cells on bone marrow pathology. Here we describe a unique case of VEXAS syndrome in a patient harboring DNMT3A gene mutation with coexisting UBA1 mutation with a review of literature.

Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review

2019 ◽  
Vol 13 (2) ◽  
pp. 246-250
Author(s):  
Xueying Su ◽  
Yongxian Shao ◽  
Yunting Lin ◽  
Xiaoyuan Zhao ◽  
Wen Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Molecular Characteristics ◽  
Chinese Girl

scholarly journals Purulent Meningitis as an Unusual Presentation ofStaphylococcus aureusEndocarditis: A Case Report and Literature Review

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Giancarlo Ceccarelli ◽  
Gabriella d'Ettorre ◽  
Vincenzo Vullo
Keyword(s):  
Staphylococcus Aureus ◽  
Case Report ◽  
Mortality Rate ◽  
Literature Review ◽  
Bacterial Meningitis ◽  
Clinical Features ◽  
Neurological Complication ◽  
Crucial Importance ◽  
Purulent Meningitis ◽  
Meningococcal Septicaemia

On presentation ofStaphylococcus aureusendocarditis, unusual manifestations may represent the main clinical features of the disease. Isolated bacterial meningitis as the first manifestation of endocarditis is considered to be an unusual neurological complication. Here, we describe a caseS. aureusendocarditis presenting as isolated meningitis and mimicking meningococcal septicaemia. Because of the high mortality rate of the disease, the prompt recognition of this infectious syndrome is of crucial importance for the correct management of patients.

scholarly journals Comedone-Like Lesions as a Manifestation of Lichen Planopilaris beyond the Scalp: A Case Report with Dermoscopic Features and Literature Review

2021 ◽  
pp. 106-113
Author(s):  
Wimolsiri Iamsumang ◽  
Suthinee Rutnin ◽  
Poonkiat Suchonwanit
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Lichen Planus ◽  
Disease Process ◽  
The Body ◽  
The Other ◽  
Inflammatory Condition ◽  
Lichen Planopilaris ◽  
Scarring Alopecia ◽  
Clinical Presentations

Lichen planopilaris is a rare inflammatory condition that is also known as follicular lichen planus. Although the condition commonly affects the scalp, it sometimes involves the other regions of the body with a variety of clinical presentations. The involvement beyond the scalp is considered to be a generalized nature of disease process. In this report, we present a case of generalized follicular lichen planus in a 34-year-old Thai female presenting with comedone-like lesions on the trunk and extremities as well as scarring alopecia on the scalp. Dermoscopic features were also discussed.

scholarly journals Clinical Presentations of Secondary Aortoenteric Fistulae: Case Report and Literature Review

2015 ◽  
Vol 4 (5) ◽  
pp. 1618-1626 ◽  
Author(s):  
Camille S Th閘in ◽  
◽  
Jared T Geist ◽  
John J Hutchings ◽  
Daniel L Raines
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Presentations

scholarly journals Primary Pulmonary Chondrosarcoma: A Case Report and Literature Review

2020 ◽  
Vol 10 ◽  
pp. 3
Author(s):  
Junaid T. Yasin ◽  
Salah A. Daghlas ◽  
Aws Hamid ◽  
Ayman H. Gaballah
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Pulmonary Function ◽  
Pulmonary Function Tests ◽  
Young Male ◽  
Lung Parenchyma ◽  
Rare Tumor ◽  
Radiological Findings ◽  
Clinical Presentations ◽  
Primary Origin

Chondrosarcomas are tumors consisting of osseous or cartilaginous stroma. They are not an uncommon pathology; however, primary pulmonary chondrosarcomas arising in lung parenchyma are extremely rare, with few cases published in literature. Herein, we present a case with biopsy-proven primary pulmonary chondrosarcoma after exclusion of primary origin elsewhere. In the case presented in this report, we demonstrate the clinical presentations, pulmonary function tests, and the radiological findings of this rare tumor in a young male patient. Further, we present a brief review of existing literature for patients with similar pathology.

Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review

2020 ◽  
Author(s):  
Mohammadreza Ghassemi ◽  
Azadeh Goodarzi ◽  
Farnoosh Seirafianpour ◽  
Samaneh Mozafarpoor ◽  
Elham Ziaeifar
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Ellis Van Creveld Syndrome
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