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

Histiocytosis X encompasses three syndromes characterized by the idiopathic proliferation of histiocytes: eosinophilic granuloma, Hand-Schuller-Christian syndrome, and Letterer-Siwe disease. At the Mayo Clinic between 1926 and 1978, 22 patients with histiocytosis X had involvement of the ear or temporal bone. These patients comprised 15% of all patients with histiocytosis X seen during that period. The ages at onset of the disease ranged from 2 months to 49 years. The most frequent otologic symptom was aural discharge (15 patients), followed in frequency by swelling in the temporal region (11 patients), vertigo (6 patients), and deafness (5 patients). Clinical findings included otitis media (13 patients), otitis externa with or without granulation tissue (10 patients), and osteolytic lesions of the temporal bone (9 patients). A high index of suspicion is required to recognize the otologic manifestations of histiocytosis X for two reasons: the systemic manifestations of the disease are often so dramatic that the ear findings are overlooked, and the otologic findings of histiocytosis X can mimic more common diseases, including simple otitis externa, aural polyps, acute mastoiditis, chronic otitis media, and metastatic lesions.
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PMID:Histiocytosis X of the ear and temporal bone: review of 22 cases. 31 4

In connection with their two own cases, the authors deal about the giant cholesterol cysts of the petrous apex. The lesions which are to be differentiated from epidermoid cysts are cholesterol granulomas. Their petrous apex location explains their characteristic large appearance. As each cholesterol granuloma, they occur when a bony cell is obstructed. This chronic obstruction induces mucosal edema then bleedings which lead to the formation and, by the lack of drainage, to the accumulation of cholesterol crystals. These crystals initiate a non specific reaction to foreign bodies, a granuloma, which also can bleed. Thus, a continuous cycle perpetuates the growth of the lesion. This lesion, when it is localized in the petrous apex, can reach a big size before the appearance of some signs. Usually, these are otologic (sensorineural hearing loss, tinnitus, vertigo) and/or cranial nerve palsies (V, VI, VII). C.T. scan (well defined, sharply marginated bony expansible lesion with isodense to the brain central part) and M.R.I. (central region of increased intensity on both T1 and T2 weighted images and peripheral rim of markedly decreased signal intensity in all instances) features are characteristic enough to allow diagnose with other petrous apex lesions (cholesteatoma, mucocele, epithelial cyst, histiocytosis X, ...). Surgical treatment must try to evacuate and to aerate the cavity or perhaps to obliterate it with fatty pieces in order to prevent the recurrence.
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PMID:[Giant cholesterol cysts of the petrous apex]. 129 72

Histiocytosis X is an uncommon disease. Temporal bone involvement is a frequent head and neck manifestation. Most patients are under fifteen years of age. The authors report a case of a bilateral extensive temporal involvement complicated with vertigo and peripheric facial palsy. CT plays a dominant role in the diagnosis because of the ability to identify bone destruction, soft tissue involvement and intra-cranial histiocytosis more accurately.
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PMID:[A rare cause of multiple lacunae of the cranial vault and temporal bone in adults: histiocytosis X]. 779 86

Langerhans cell histiocytosis (LCH) is a rare disease that may show as a solitary or multifocal lesion of bone, soft tissue or viscera. Involvement of the temporal bone has been described in 15-61% of patients with LCH, usually in association with multisystemic involvement. We report the case of a 30-year-old man presenting with vertigo and fluctuating hearing loss caused by monosystemic LCH of the left petrous bone. The patient was treated with radiosurgery (covering dose 10 Gy at 85% isodose, maximum dose 11.76 Gy). Two years after treatment, no evidence of recurrent disease was found in the CT scan or MRI. We discuss the treatment of temporal bone LCH, traditionally based on surgery, low-dose radiation therapy and intralesional steroids. To our knowledge, this is the first reported case of LCH of the petrous bone successfully treated with radiosurgery. This approach may be interesting in cases of LCH located on nonaccessible areas of the temporal bone.
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PMID:Petrous bone Langerhans cell histiocytosis treated with radiosurgery. 1722 79

A 56-year-old woman with Langerhans cell histiocytosis of the petrous bone presented with sudden onset of sensorineural hearing loss and vertigo without other neurological impairment, mimicking idiopathic sudden sensorineural hearing loss. Differential diagnosis was difficult until neuroimaging demonstrated a lesion of the petrous bone. The patient eventually underwent removal of the lesion via the transpetrosal approach, and received postoperative chemotherapy consisting of vinblastine, methotrexate, 6-mercaptopurine, and prednisolone. Although her hearing did not recover, complete remission was achieved, and the patient is currently free from disease. Physicians need to be aware that patients with sudden onset of hearing loss may have an unexpected and hidden disease which requires neuroimaging and histological examinations for definitive diagnosis and appropriate treatment.
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PMID:Langerhans cell histiocytosis of the petrous bone with sudden sensorineural hearing loss. Case report. 2080 58

An 8-year-old girl presented with a 1-year history of bilateral progressive hearing loss and vertigo for 6 months. High-resolution computed tomography of the temporal bones demonstrated multiple lytic lesions. Histopathology examination confirmed a diagnosis of Langerhans cell histiocytosis (LCH). She underwent chemotherapy for 12 months. Following treatment, she was in remission. However, the bilateral profound sensorineural hearing loss persisted. She underwent right cochlear implantation with very good functional audiological outcomes. This is the first known reported case of successful auditory rehabilitation through cochlear implantation in a patient with bilateral profound hearing loss due to isolated bilateral temporal bone LCH.
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PMID:Successful cochlear implantation in Langerhans cell histiocytosis: A rare case. 2915 65

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of organs by CD68+ and CD1a- lipid-laden histiocytes, including the central nervous system in more than a third of patients. Molecular analysis of ECD samples has demonstrated the prevalence of BRAF V600E mutations as high as 54%. Recently, vemurafenib became the only Food and Drug Administration-approved treatment for patients with ECD who carry the BRAF V600E mutation. However, dabrafenib has been suggested to have greater brain distribution. We describe a 44-year-old female patient treated from August of 2015 through November 2017. She presented with a 2-year history of light-headedness, fatigue, and vertigo. She was moderately dysmetric, diffusely hyperreflexic, and dysarthric in the bilateral upper and lower extremities. Her gait was wide-based. She had dysarthria and nystagmus on horizontal gaze bilaterally. Magnetic resonance imaging showed an extensive area of increased T2/fluid-attenuated inversion recovery signal in the brain stem, enhancement in the pons and midbrain, and thickening of the pituitary stalk. Positron emission tomography/computed tomography (PET/CT) and whole-body technetium Tc99m bone scintigraphy showed intense symmetrical radiotracer uptake in the distal femur and tibia bilaterally, which was biopsied. Immunohistochemistry was negative for BRAF V600E, but genomic sequencing revealed the mutation. The patient received combination therapy with dabrafenib and trametinib. Her nystagmus, dysarthria, dysmetria, and gait improved remarkably. Subsequent PET/CT and magnetic resonance imaging showed complete resolution of all radiographic evidence of disease. In this case report, we demonstrate the success of a combination therapy with dabrafenib and trametinib.
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PMID:Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement. 3022 65