Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diseases of the jaw bones in children can be monostotic or polyostotic. Examples are fibrous dysplasia and Langerhans cell granulomatosis. Sarcomas of the jaw bones are rare, but do occur with some preference in children. The dentist should be aware of the clinical and even more so of the rather typical radiologic changes in such diseases.
 ...
PMID:[Oral pathology in children. Part III. Abnormalities of the jaw bones]. 1192 86

A benign bone lesion may have a typical appearance on plain radiographs. This is the case with benign cortical defects and osteochondroma. With most other lesions, cross-sectional imaging is needed to complete the study of the tumor. The nidus of osteoid osteoma is well demonstrated on computed tomography, but magnetic resonance imaging also will show the nidus in most cases. Magnetic resonance imaging is considered the modality of choice for evaluation of other benign musculoskeletal lesions because it is highly sensitive to changes in the signal intensity of bone marrow and adjacent soft tissues. It provides useful information for diagnosis of the lesion as in primary or secondary aneurysmal bone cyst, chondroblastoma, osteoblastoma, fibrous dysplasia, and osteofibrous dysplasia, and it helps differentiate these lesions from osteomyelitis, Langerhans' cell histiocytosis, and stress fracture. Bone scanning is most useful for depicting multiple silent lesions as may be seen in multiple osteochondromatosis, nonossifying fibromas, and polyostotic fibrous dysplasia.
 ...
PMID:Magnetic resonance imaging of benign bone lesions: cysts and tumors. 1240 90

We report a case of a girl with Langerhans cell histiocytosis (LCH) of multifocal bone disease, who developed recurrent bacterial meningitis and unilateral sensorineural hearing loss during the relapsing course of the disease. Mondini dysplasia, a congenital inner ear anomaly, was suspected by high resolution computed tomographic scan and the dysplasia with cerebrospinal fluid leakage was confirmed by surgery in the ipsilateral ear showing hearing loss. Although rare, congenital inner ear anomalies such as Mondini dysplasia should be kept in mind in pediatric patients with hearing impairment and/or recurrent bacterial meningitis during chemotherapy for various types of neoplasms including LCH.
 ...
PMID:Mondini dysplasia and recurrent bacterial meningitis in a girl with relapsing Langerhans cell histiocytosis. 1517 Aug 97

Facial swelling is a common clinical problem in pediatric patients. The causes of swelling are diverse, and knowledge of the typical clinical and imaging manifestations and the most common sites of occurrence of these conditions is needed to formulate a differential diagnosis. The general clinical manifestations may be classified into the following four groups: (a) acute swelling with inflammation, (b) nonprogressive swelling, (c) slowly progressive swelling, and (d) rapidly progressive swelling. Conditions that may account for acute swelling accompanied by inflammation include lymphadenitis, sinusitis, odontogenic infection, and abscess. Contrast-enhanced computed tomography is the modality of choice for detection of abscesses requiring surgical drainage. Nonprogressive midfacial swelling is suggestive of a congenital anomaly (eg, a cephalocele, nasal glioma, or nasal dermoid or epidermoid cyst). Slowly progressive swelling may indicate the presence of a neurofibroma, hemangioma, lymphangioma, vascular malformation, or pseudocyst, or of fibrous dysplasia. The differential diagnosis for rapidly progressive facial swelling in association with cranial nerve deficits should include rhabdomyosarcoma, Langerhans cell histiocytosis, Ewing sarcoma, osteogenic sarcoma, and metastatic neuroblastoma.
 ...
PMID:Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings. 1641 50

Growth of benign tumours and tumour-like lesions of bone results in osteolysis which may cause pathological fracture. Bisphosphonates are anti-osteolytic agents which have proved effective in the treatment of number of osteolytic conditions. In this study we report the results of treatment with the aminobisphosphonate, pamidronate, of three benign osteolytic tumours of bone, two cases of fibrous dysplasia and one of Langerhans cell histiocytosis. In all three cases there was clinical and radiological improvement following treatment. Radiologically, bone lesions did not exhibit progressive enlargement. Two cases of fibrous dysplasia also showed features suggestive of increased bone formation. These findings indicate that bisphosphonates are likely to be useful in controlling the osteolysis of benign tumours/tumour-like lesions of bone, particularly in those cases where surgical intervention is not possible or multifocal lesions are present.
 ...
PMID:Bisphosphonate treatment of benign multifocal and unifocal osteolytic tumours of bone. 1852 67

Many extraocular masses involving the pediatric orbit have an osseous origin. The most common is the dermoid inclusion cyst; these cystic lesions may contain lipid and are most often found near the zygomaticofrontal suture, adjacent to an indolent-appearing erosion of bone. Some primary bone lesions may involve the orbit, producing a lytic or dense lesion with enlargement of the bone; these lesions include fibrous dysplasia, juvenile ossifying fibroma, and osteosarcoma. Fibrous dysplasia tends to produce a mass of ground-glass appearance with longitudinal osseous expansion, whereas juvenile ossifying fibroma is likely to produce a mixed lytic and sclerotic lesion and focal osseous enlargement. Osteosarcoma causes marked bone destruction and variable osteoid production. Langerhans cell histiocytosis, an idiopathic reticuloendothelial proliferative disorder, tends to involve the bones of the skull, especially the lateral orbital roof; it produces lytic destruction of bone with a sclerotic rim and a large intraorbital soft-tissue mass. Granulocytic sarcoma is a solid tumor that may occur in children with myelogenous leukemia. These tumors tend to arise in the subperiosteum of the lateral orbital wall, although they usually do not disrupt the bone. Finally, the orbit is a common site for bone metastases from neuroblastoma, which cause aggressive periosteal reaction in the orbital roof or lateral wall. The last three conditions are often bilateral. At imaging evaluation, osseous lesions may appear similar to each other and to nonosseous masses of the orbit. Knowledge of the pathologic features of these tumors and how these features are reflected in their imaging appearances may help radiologists differentiate them.
 ...
PMID:From the Archives of the AFIP. Pediatric orbit tumors and tumorlike lesions: osseous lesions of the orbit. 1863 37

The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP), suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome), permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a number of options including the use of crowns, over-dentures and dental implants depending on the age of the patient and the condition of the dentition. Where diagnosis occurs early in life and treatment follows the outlined recommendations, good aesthetics and function can be obtained.
 ...
PMID:Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. 1902 96

Intrinsic bony lesions of the skull base are diseases which arise within the bones forming the skull base. Mainly they are bone tumours and tumour-like lesions. With the exception of osteomas of the paranasal sinuses and exostoses of the external auditory canal, these lesions occur rarely. This article gives an overview of the appearance of the most common primary bony skull base masses in CT and MRI. From the authors' point of view these are fibrous dysplasia, chordomas, chondrosarcomas, Langerhans cell histiocytosis and multiple myelomas, which must be differentiated from pseudolesions. The possibilities of CT and MRI in making a specific diagnosis, differential diagnosis and the kind of making the final diagnosis are described.
 ...
PMID:[CT and MRI of intrinsic space-occupying lesions of the bony skull base]. 1943 84

This study was designed to describe the bone marrow features of multisystem Langerhans cell histiocytosis (LCH) at diagnosis in patients with or without hematologic dysfunction. A retrospective review of bone marrow biopsies from patients with multisystem LCH was performed. Cases were diagnosed at the Garrahan Hospital between 1987 and 2004. Routine and immunohistochemistry techniques (hematoxylin-eosin, periodic acid-Schiff, Giemsa, Gomori reticulin, and CD1a, CD68, and CD61) were evaluated. Clinical outcome and laboratory data were obtained from the medical charts. Twenty-two bone marrow biopsies from patients with multisystem LCH were reviewed at onset of disease. Four patients had no hematologic dysfunction and the other 18 patients had monocytopenia (9), bicytopenia (7), or tricytopenia (2). Increased number and dysplasia of megakaryocytes were evident in 22/22 samples and emperipolesis was present in 21/22 (95%). Aggregates of histiocytes and hemophagocytosis were seen in 9/22 samples. Myelofibrosis was found in 16/17 (94%) evaluable samples at diagnosis. No association of myelofibrosis and cytopenias or clinical outcome was found. Positive CD1a confirmed the presence of LCH cells in 3/22 (14%) samples. Hemophagocytosis and poor outcome were significantly more common in patients with bilineage and trilineage cytopenias. Langerhans cell histiocytosis cells were rarely seen in the bone marrow of these patients (14%); increased histiocytes and hemophagocytosis were more commonly found (41%). Hemophagocytosis was associated with severe cytopenias. Bicytopenia and tricytopenia were associated with poor outcome (death). Myelofibrosis, megakaryocytic dysplasia, and emperipolesis were common findings.
 ...
PMID:Bone marrow findings at diagnosis in patients with multisystem langerhans cell histiocytosis. 1986 48

Infantile myofibromatosis is a mesenchymal disorder of early childhood characterized by the formation of tumors in the skin, muscle, viscera, bone, and subcutaneous tissue. Although relatively rare overall, it represents the most common fibrous tumor of infancy. The etiology of this disorder is unknown. Infantile myofibromatosis can present as a solitary or multicentric form. With the multicentric form, bone is often involved, but solitary bone lesions account for only 10% of the cases. Imaging findings are not pathognomonic, and the differential diagnosis usually includes eosinophilic granuloma (Langerhans cell histiocytosis), osteomyelitis, metastasis, osteoblastoma, epidermoid cyst, hemangioma, fibrous dysplasia, fibrosarcoma, and meningioma. A histological pattern is typical, but there are no histopathological differences between the solitary and multicentric forms. Solitary lesions generally have a favorable prognosis if totally removed, with a 10% recurrence rate; incompletely resected lesions recur. We report the case of a 9-year-old boy who came to our attention with a solitary infantile myofibroma of the calvarium, appearing as a tight-elastic, lightly tender mass in the left frontal area, eroding both the inner and the outer tables. Histopathologically, the specimens showed a spindle-cell tumor with dense reticulin fiber network and expression of smooth muscle actin. Fifty-eight months MR follow-up after total removal showed no residual or relapse.
 ...
PMID:Solitary infantile myofibromatosis of the cranial vault: case report. 2127 63


<< Previous 1 2 3 4 Next >>