scholarly journals Xanthoma Disseminatum In a Pair of Blind, Deaf Male Twins

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Naveed Natanzi ◽  
David Peng ◽  
Eli Ahdoot ◽  
Sandra Ghatan ◽  
Amy Reinstandler ◽  
...  
Keyword(s):  
Chronic Disease ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Inheritance Pattern ◽  
Mucous Membranes ◽  
First Time ◽  
Xanthoma Disseminatum

Xanthoma disseminatum (XD) is a rare normolipemic histiocytic disorder of non-Langerhans cell origin characterized by erythematous to tan/brown papules in flexor surfaces. Considered a generally benign, chronic disease of unknown etiology, XD typically affects the skin, mucous membranes, and less commonly, other organs. To date, there has been no typical or consistent inheritance pattern described, nor has it ever been considered as a component of any known syndrome. We describe, for the first time, two cases of XD in a pair of blind and deaf twin brothers.

scholarly journals West Nile Fever in the Tula region, Russian Federation

2014 ◽  
Vol 19 (2) ◽  
pp. 20-25
Author(s):  
A. M. Butenko ◽  
A. A. Kozlova ◽  
V. F. Larichev ◽  
T. K. Dzagurova ◽  
R. A Pantykhova ◽  
...  
Keyword(s):  
Russian Federation ◽  
Neutralization Test ◽  
Unknown Etiology ◽  
Serological Testing ◽  
West Nile Fever ◽  
Febrile Disease ◽  
West Nile ◽  
Duration Of Hospitalization ◽  
Duration Of Disease ◽  
First Time

As a result of serological testing (MAC-ELISA, ELISA-IgG and neutralization test) 143 sera from 132 patients with acute febrile disease of unknown etiology hospitalized in summer 2012 in the hospitals of Tula, the first time in Tula and the Tula region were diagnosed 4 cases of West Nile fever. The age ofpatients was 42, 60, 62 and 64. They all got sick in August 2012. The temperature reached 39-40°C. Duration of disease from 13 to 20 days, the duration of hospitalization from 8 to17 days. Neurological symptoms were observed in two patients in the form of meningeal syndrome and encephalopathy with asthenic symptoms (in one case) and faint meningeal syndrome (in another).

scholarly journals Langerhans cell histiocytosis of the rib presenting with pathological fracture: a case report

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Tao Zuo ◽  
Ping Jiang ◽  
Junjie Yu ◽  
Ke Zhao ◽  
Yong Liu ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Pathological Fracture ◽  
Soft Tissues ◽  
Langerhans Cell ◽  
Rib Fracture ◽  
Unknown Etiology ◽  
Case Presentation ◽  
Left Chest ◽  
Rib Tumor

Abstract Introduction Langerhans cell histiocytosis (LCH) is a rare neoplastic hyperplasia with an unknown etiology. It is clinically rare for patients with solitary rib lesion and pathological fracture; moreover, its diagnosis and treatment are quite difficult. The purpose of this study is to present a case for the pathogenesis, clinical features, imaging, and treatment of this disease. Case presentation A 52-year-old female patient complained of left chest pain for one week. CT showed a fracture in the left 5th rib. The rib tumor was then resected and the surrounding muscles and soft tissues were accordingly resected. The patient was diagnosed with pathological rib fracture, and the patient was pathologically diagnosed with LCH. After surgery, no local recurrence or distant metastasis was reported during the two-year follow-up. Conclusions LCH should be treated by observation, chemotherapy, radiotherapy, or surgery, or using a combination of several methods. Moreover, primary tumor should be considered when rib fracture without trauma and tumor metastasis.

scholarly journals Langerhans-Cell Histiocytoses - Epidemiology, Classification, Clinical Features, Diagnosis, Complications, Treatment and Prognosis

2016 ◽  
Vol 9 (1) ◽  
pp. 3-16 ◽  
Author(s):  
Vera E. Papochieva ◽  
Dimitrinka S. Miteva ◽  
Penka I. Perenovska ◽  
Guergana Petrova
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Eosinophilic Granuloma ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Bone Lesions ◽  
Multisystem Disease ◽  
The Past ◽  
System Disease ◽  
Young Smokers ◽  
Underlying Pathology

Summary Histiocytoses comprise a group of diverse diseases of unknown etiology with various clinical presentation and evolution. The underlying pathology is characterised by accumulation and infiltration of variable numbers of cells of the monocyte-macrophage line in the affected tissues and organs. Histiocytoses are divided into three major classes: Langerhans cell histiocytosis (LCH), non- Langerhans cell histiocytosis, and malignant histiocytic disorders. The term LCH (also known in the past as histiocytosis X) encompasses the following rare diseases: Eosinophilic Granuloma, Hand-Schuller-Christian disease, Letterer-Siwe disease, Hashimoto-Pritzker disease, in which accumulation of pathologic Langerhans cells (LCs) leads to tissue damage. LCs usually reside in the skin and ensure protection against infections by destroying foreign substances. LC accumulation is caused by antigen stimulation and inadequate immune response. Thus, clinical LCH manifestations range from isolated disease with mono- or multifocal bone lesions to disseminated multisystem disease. LCH is a rare disease, affecting mainly children and young smokers, aged 20-50 years. Lung involvement in LCH usually presents as a mono-system disease and is characterized by Langerhans cell granulomas (LCG) infiltrating and impairing the distal bronchioles. The definite diagnosis is based on lung biopsy of CAT selected LCG areas. So far, there is no an effective treatment, but the better understanding of the mechanisms involved in the pathogenesis of the disease would help in the development of effective therapeutic strategies in the future.

A case of fixation amnesia in Langerhans cell histiocytosis involving the central nervous system

2020 ◽  
Vol 12 (6) ◽  
pp. 117-123
Author(s):  
L. V. Lukina ◽  
V. A. Mikhailov ◽  
N. I. Ananyeva ◽  
G. E. Mazo ◽  
L. I. Sitnik ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Langerhans Cell Histiocytosis ◽  
Correct Diagnosis ◽  
Brain Lesion ◽  
Clinical Findings ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Bone Lesions ◽  
The Central Nervous System

Langerhans cell histiocytosis (LCH) is a rare disease with hitherto unknown etiology and pathogenesis. It is extremely rare for clinicians to encounter histiocytic lesions of the central nervous system (CNS); the proportion of cases of which is only 1–4% of all polysystemic and multifocal bone lesions. The paper describes a clinical case of fixation amnesia in a female patient with focal brain lesions in LCH. It depicts the most characteristic clinical features and presents an algorithm for the diagnosis of histiocytic brain lesion. The results of the experimental psychological examination of the patient are considered in detail and the clinical presentations of fixation amnesia are described. There are neuroimaging data showing the lesions in the hypothalamic-pituitary region and temporal bone, which involve the auditory structures. The clinical findings have led to the conclusion that both the clinical and neuroimaging patterns of histiocytic lesions in the CNS are non-specific, which complicates the diagnostic search in LCH. For correct diagnosis and timely treatment, it is necessary to perform a biopsy of the pathological focus, followed by histological and immunohistochemical examination of the material.

Oral Submucous Fibrosis—treatment with hyalase

1985 ◽  
Vol 99 (1) ◽  
pp. 57-60 ◽  
Author(s):  
P. K. Kakar ◽  
R. K. Puri ◽  
V. P. Venkatachalam
Keyword(s):  
Chronic Disease ◽  
Connective Tissue ◽  
Oral Cavity ◽  
Oral Submucous Fibrosis ◽  
Unknown Etiology ◽  
Vesicle Formation ◽  
The Past ◽  
Oral Mucous Membrane ◽  
Submucous Fibrosis ◽  
Placental Extract

AbstractOral Submucous Fibrosis (OSMF) is a disease of unknown etiology. A total of 96 patients with Oral Submucous Fibrosis have received four regimens of treatment–local dexamethasone, local hyaluronidase, local combination of dexamethasone and hyaluronidase, and local placental extract. The patients were followed up for a period varying from 3 months to 2 years. The group of patients receiving hyaluronidase alone showed quicker improvement in symptoms although its combination with dexamethasone gave somewhat better longer-term results. A new regimen for the treatment of submucous fibrosis is recommended.Oral Submucous Fibrosis is a well-known clinical entity, known since the time of Sushurta. In the modern literature, this condition was first reported by Schwartz (1952). Joshi (1953) was the first person to describe this entity in India.Oral Submucous Fibrosis has been defined as an insidious chronic disease of unknown etiology, reported mainly in Indians, and affecting the entire oral cavity. The basic change is a fibro-elastotic transformation of the connective tissue in the lamina propria preceded by vesicle formation. In its later stages the oral mucous membrane becomes stiff and the patient suffers from trismus and resultant difficulty in eating (Pindborg and Sirsat, 1966).The present paper deals with our experience in the management of Oral Submucous Fibrosis over the past 21/2 years.

scholarly journals CD40Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Ho-Chang Kuo ◽  
Mei-Chyn Chao ◽  
Yu-Wen Hsu ◽  
Ying-Chi Lin ◽  
Ying-Hsien Huang ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Systemic Vasculitis ◽  
Recessive Model ◽  
Unknown Etiology ◽  
Nucleotide Polymorphisms ◽  
Taiwanese Population ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
First Time

Background. Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. Our previous studies showed expression ofCD40ligand on CD4+ T cells correlated to the coronary artery lesion (CAL) and disease progress in KD. Other studies from Japan suggested the role ofCD40Lin the pathogenesis of CAL, and this might help explain the excessive number of males affected with KD but cannot be reproduced by Taiwanese population. This study was conducted to investigate theCD40polymorphism in KD and CAL formation.Methods. A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 2 tagging single-nucleotide polymorphisms (tSNPs) ofCD40(rs4810485 and rs1535045) by using the TaqMan allelic discrimination assay.Results. A significant association was noted with regards toCD40tSNPs (rs1535045) between controls and KD patients (P=0.0405, dominant model). In KD patients, polymorphisms ofCD40(rs4810485) showed significant association with CAL formation (P=0.0436, recessive model). Haplotype analysis did not yield more significant results between polymorphisms ofCD40and susceptibility/disease activity of KD.Conclusions. This study showed for the first time that polymorphisms ofCD40are associated with susceptibility to KD and CAL formation, in the Taiwanese population.

scholarly journals Bone Scintigraphy in the Examining of Treatment-Naive Pediatric Patients With Langerhans Cell Histiocytosis

2020 ◽  
Vol 3 (1) ◽  
pp. 21-37
Author(s):  
A. S. Krylov ◽  
A. D. Ryzhkov ◽  
S. M. Kaspshik ◽  
M. A. Krylova ◽  
E. E. Stanyakina ◽  
...  
Keyword(s):  
Bone Scintigraphy ◽  
Langerhans Cell Histiocytosis ◽  
Pediatric Patients ◽  
Bone Destruction ◽  
Langerhans Cell ◽  
Whole Body ◽  
Unknown Etiology ◽  
X Ray ◽  
Treatment Naïve ◽  
Proven Case

Introduction: Histiocytosis is a heterogeneous group of rare diseases of unknown etiology. LCH is characterized by an abnormal proliferation of histiocytes (activated dendric cells and macrophages). Langerhans cell histiocytosis (LCH) is the most common form of histiocytosis, it is a potentially fatal diseases. Early detection of LCH plays an important role in its prognosis and outcome. However, the role of advanced methods of nuclear medicine in diagnosis of LCH is still to be researched. We have long-term experience in observing pediatric patients with LCH. Taking into the account the difficulty of diagnostic task for bone scintigraphy in identifying lytic bone destruction, we stated the following objective of the study.Purpose: Retrospective and prospective analysis of bone scintigraphy examinations of treatment-naive pediatric patients with LCH and calculate the diagnostic efficacy of bone scintigraphy. Material and methods: We analyzed 60 examinations of treatment-naive pediatric patients with proven case of LCH (2014-2019). The scanning was performed using whole body mode, 3 hours after intravenous injection of bone-seeking radiopharmaceutical 99mTc-MDP on Symbia E, T2 (Siemens, Germany). The median age was 5.6 years.Results: During examination we visualized 88 lesions with pathological level of accumulation of radiopharmaceutical in 60 patients. 84 with high level of accumulation (>120 %); 3 with slightly increased level of accumulation (100–120 %) and 1 with lower than normal level of accumulation (<100 %). The median level of accumulation of radiopharmaceutical was 268 %. Max level of accumulation was 1422 % (patient with subtotal involvement of femoral bone). Min — 60 % (patient with lytic destruction in orbital bone). During X-Ray we found out 97 pathological focuses of bone lytic destruction. In 3 patients with polyostotic form we found extra focuses on scintigraphy, which were confirmed with following examination and X-Ray. 8 lesions were not found on scintigraphy in 8 patients.Сonclusions: We evaluated diagnostic accuracy of bone scintigraphy with 99mTc-MDP in treatment-naïve pediatric patients with proven case of LCH. Sensitivity, specificity, NPV and PPV — 91.6, 50.0, 11.1, 98.6 %, respectively.

scholarly journals Psychological aspects of treatment and rehabilitation of patients with adolescent idiopathic scoliosis: research analysis

2019 ◽  
Vol 7 (2) ◽  
pp. 103-115
Author(s):  
Galina V. Pyatakova ◽  
Olga V. Okoneshnikova ◽  
Anastasia O. Kozhevnikova ◽  
Sergei V. Vissarionov
Keyword(s):  
Quality Of Life ◽  
Chronic Disease ◽  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Psychological Aspects ◽  
Unknown Etiology ◽  
Modern Approach ◽  
Psychological Component ◽  
Surgical Methods

Idiopathic scoliosis is a common orthopedic disease of unknown etiology in childhood that limits the patient’s activity for a lifetime. Treatment of idiopathic scoliosis includes both conservative and surgical methods and requires psychological consideration, which is important for the rehabilitation of patient with chronic disease. Systematic research on the psychological aspects of the treatment and rehabilitation of patients with idiopathic scoliosis in the form of analysis allows us to evaluate the medical and psychological approaches to the problem and to identify the factors contributing to the successful adaptation of the patient to chronic disease situation. Methodology. We selected the articles related to the psychological aspects of scoliosis and its treatment between 2017 and 2018. The primary selection included 16 publications, of which 2 were survey studies. Earlier foreign and domestic publications were also included in the analysis in order to compare the changes in treatment and rehabilitation approaches. Literature analysis. Idiopathic scoliosis was considered as a risk factor for psychological discomfort in the forms of stress, negative emotions, anxiety, distortion of the image of “I,” reduced self-esteem, and communication problems. These increase the risk of mental disorders, such as depression, suicidal tendencies, and psychological disadaptation. Discussion. Analysis allows us to highlight the most important topics in the studies of adolescent idiopathic scoliosis in recent years: topic on mental health/ill health in adolescent idiopathic scoliosis (AIS), theme of the psychological component of pain, topic on clinical psychological and social psychological factors that determine the course of the disease of the patients with AIS, quality of life of a child or adolescent with AIS, issues of psychological resources for adaptation to a chronic disease, topic on parents’ perception of their child’s illness, and topic on the psychological accompaniment of patients suffering from AIS. Conclusions. A modern approach to the study of idiopathic scoliosis suggests a point of view from a biopsychosocial model of the disease; therefore, it is necessary to consider various factors affecting the patient’s quality of life, including the psychological component of the disease. Psychological support of the treatment should focus on the formation of the patient’s active position in relation to his or her own life and active coping strategies with chronic disease.

scholarly journals Unusual Location for Langerhans Cell Histiocytosis: Basisphenoid extended to Parapharyngeal Space

2016 ◽  
Vol 8 (1) ◽  
pp. 38-40
Author(s):  
Asif Salimov ◽  
Ahmet E Suslu ◽  
Serdar Ozer ◽  
Taner Yilmaz ◽  
Hatice IY Bajin
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Parapharyngeal Space ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Endoscopic Endonasal ◽  
Unusual Location ◽  
First Case ◽  
Rare Location ◽  
Magnetic Resonance Imaging Mri ◽  
The Right

ABSTRACT Langerhans cell histiocytosis (LCH) is a rare disease with unknown etiology involving abnormal proliferation of histiocytes. We hereby describe an LCH that has a rare location. A 4-year-old female patient was referred to our clinic with headache lasting for 2 months. Magnetic resonance imaging (MRI) showed an expansile mass on the level of basisphenoid extended to the right parapharyngeal space with dense contrast enhancement. The patient underwent endoscopic endonasal transsphenoidal surgery for biopsy of the mass. Immunohistochemical and pathological studies confirmed LCH diagnosis. This is the first case report of LCH extended to the parapharyngeal space in the current literature. How to cite this article Salimov A, Suslu AE, Ozer S, Yilmaz T, Bajin HIY. Unusual Location for Langerhans Cell Histiocytosis: Basisphenoid extended to Parapharyngeal Space. Int J Otorhinolaryngol Clin 2016;8(1):38-40.

scholarly journals Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

2018 ◽  
Vol 21 (1) ◽  
pp. 69-72 ◽  
Author(s):  
AK Khan ◽  
SA Khan ◽  
Na Muhammad ◽  
No Muhammad ◽  
J Ahmad ◽  
...  
Keyword(s):  
Phospholipase C ◽  
Autosomal Dominant ◽  
Inheritance Pattern ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
The Family ◽  
Characteristic Features ◽  
Hands And Feet ◽  
First Time ◽  
Toe Nails

AbstractHuman hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, δ1 (PLCD1), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of DNA detected a p.Cys209Arg mutation, reported for the first time in a Pakistani Pashtun family.

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