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)

A 34-year-old woman developed polydipsia, polyuria, amenorrhea and loss of pubic hair in 2001, but did not seek medical advice. On September 7th, 2009, she was admitted to our hospital complaining of acute exacerbation of dyspnea on exertion. Chest computed tomography (CT) showed multiple cystic lesions, predominantly in bilateral lower lung fields. Non-segmental, diffuse ground-glass attenuated areas and thickened bronchovascular bundles were also seen in bilateral lung fields. Pathological findings of lung specimens from a surgical lung biopsy (right S6 and S8) 14 years previously showed infiltration of S100 protein-positive histiocytoid cells in the bronchiolar wall. As a result, pulmonary Langerhans cell histiocytosis (PLCH) was diagnosed. Moreover, panhypopituitarism due to LCH was identified on endocrine testing. Dyspnea on exertion, reduction of carbon-monoxide diffusing capacity (D(LCO)) and ground-glass attenuation areas on CT were improved by smoking cessation alone, and she was discharged. However, similar acute deterioration of PLCH recurred 4 months after first admission. Her dyspnea on exertion, reduction of D(LCO) and ground-glass attenuation areas on CT were improved again by 500 mg/day methylprednisolone pulse therapy for 3 days. This case was a unique combination of panhypopituitarism and the appearance and disappearance of ground-glass attenuation areas on CT, paralleling PLCH disease activity.
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PMID:[A case of pulmonary Langerhans cell histiocytosis with panhypopituitarism]. 2140 Sep 8

Goiter is a very common clinical problem; however, Langerhans cell histiocytosis (LCH) with thyroid involvement that presents as a goiter is very rare. In this article, we report one case of thyroid LCH. An 18-year-old male patient presented with goiter, polyuria, polydipsia, and lymphadenectasis of the neck, and LCH was confirmed by a lymph node biopsy and pathological investigation. Without a thyroidectomy, the goiter shrank after nine cycles of chemotherapy. In addition, we summarize the reported thyroid LCH cases in the literature from the last 10 years. LCH usually involves other organs, such as the lungs, bones, skin, pituitary gland, and lymph nodes. Thyroid LCH is more common in adults than in children, and it may coexist with a thyroid carcinoma. Without any unique thyroid manifestations, either clinically or by imaging, it is difficult to distinguish thyroid LCH from other thyroid diseases. Pathology is the gold standard for the diagnosis of LCH. A fine needle aspiration biopsy (FNAB) may help to diagnosis LCH, although sometimes it leads to misdiagnosis. Chemotherapy is recommended for multi-system LCH. Younger patients with widespread disease or who are non-responsive to chemotherapy have poor outcomes.
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PMID:A rare cause of goiter: Langerhans cell histiocytosis of the thyroid. 2201 48

Erdheim-Chester disease (ECD), first described by Jakob Erdheim and William Chester in 1930, is a rare form of non-Langerhan's cell histiocytosis with unknown aetiology, is charaterized by systemic xanthogranulomatous infiltrative disease. To date, about 350 cases of ECD have been described in the medical literature. The typical ECD diagnostic triad is bone pain, diabetes insipidus and bilateral exophthalmos. A 24 years old man came at our attention for polydipsia with nocturnal and diurnal polyuria, anorexia, febrile episodes (38(o)C), and arthromyalgia especially in the knees. Physical examination showed bilateral periorbital xanthelasma. Blood exams showed increase of plasma osmolarity, haematocrit, sodium and urea and decrease of potassium. Urine exams showed just decreased urine specific gravity, (1.001;normal range: 1.010-1.030) suggestive for central diabetes insipidus (CDI). Brain magnetic resonance with gadolinium enhancement showed the presence of multiple hyperintense lesions expecially in neurohypophysis (swollen and with markedly contrast enhancement). All these data raised the suspision of neurosarcoidosis, so a chest and abdomen contrast enhancement computed tomography was performed, which didn't show abnormalities, making less possible the diagnosis of sarcoidosis. Two weeks later, whole-body (from head to pelvis) plus lower limbs 18-fluorine-labelled 2-deoxy-2-fluoro-D-glucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) was performed. Uptake of (18)F-FDG was observed in the upper portion of the midbrain area (SUV(max) 7.1) and the pituitary gland (SUV(max) 7.3), and diffuse bone marrow uptake of (18)F-FDG in the proximal epiphysis and metaphysis of both humeri and thigh bones (SUV(max) 6.5), shoulder blades, pelvis bones and the L2 vertebral body (SUV(max) 3.9). This (18)F-FDG PET/CT confirmed the presence of brain lesion seen in MRI , the absence of visceral lesions, but also showed the presence of an atypical bone uptake of (18)F-FDG, leading to the suspision of ECD. A technetium-99m-methyl-diphosphonate skeletal scintigraphy ((99m)Tc-MDP) scan showed diffuse uptake of the radiopharmaceutical, in the diaphysis of long bones and in the left portion of the body and the spinous process of L2. Considering the difficulties of an osteomedullary or brain biopsy, biopsy was performed on a right anterior thoracic cutaneous xanthelasma. Histology showed lipid-laden histiocytes (CD1a-, CD68+, S-100 protein -) with small nuclei, Touton giant, lymphocytic infiltrates, eosinophils and fibrosis, ECD gold standard patterns as reported in literature. The patient was discharged with the diagnosis of ECD with central nervous system (CNS) manifestations, and treatment started. The diagnosis can be lead by the most charateristic bone findings of symmetrical osteosclerosis of the long bones, especially the lower limbs (tibia and fibula), involving metaphyses and diaphyses but sparing epiphyses. The typical pattern of osteoscerosis of the long bones reflects increased osteoblastic activity. About half of all ECD patients may experience extraskeletal manifestations, including CNS. Visceral involvement in ECD is not specific, and this enforces the diagnostic value of skeletal imaging findings. Furthermore xanthomas can be found at any location on the skin, especially the eyelids as in our patient. For visceral involvement, CT is most useful, while MRI is more sensitive for CNS lesions. Involvement of CNS may be frequently revealed clinically by diabetes insipidus. Few case reports have shown that (18)F-FDG PET/CT scanning could be useful in assessing the extension of ECD lesions. Both radiography and (99m)Tc-MDP skeletal scintigraphy may reveal osteosclerosis of the long bones, which is a typical finding in ECD. The typical bone pattern of (18)F-FDG PET/CT scan is specific for ECD and (99m)Tc-MDP skeletal scintigraphy may be performed in patients in whom initial (18)F-FDG PET/CT scans present the possibility of ECD diagnosis. Others reported that (18)F-FDG PET/CT scans had good sensitivity (66.7%) and specificity (92.3%) as compared with MRI of the CNS involvement or lesions. In conclusion, the (18)F-FDG PET/CT scan and the (99m)Tc-MDP scan depicted many of the most relevant lesions of ECD for the initial assessment of ECD in our patient.
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PMID:(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease. 2208 57

Langerhans cell histiocytosis (LCH) is a disorder of dendritic cell proliferation with subsequent tissue damage often requiring chemotherapy. Neurodegenerative LCH presents with neuromuscular, cognitive, and behavioral alterations typically occurring years after diagnosis of active LCH. We present a male child with a 4-year history of growth arrest, polyuria, polydipsia, recurrent otitis media, and seborrheic dermatitis. Cutaneous biopsies confirmed LCH and chemotherapy was initiated. During treatment for active LCH he developed neuropsychiatric decline. White matter changes on brain MRI were consistent with neurodegenerative LCH. Treatment was changed to cytarabine and intravenous immunoglobulin. After 1 year of therapy the patient experienced neuropsychological improvement.
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PMID:Recognition and treatment of concurrent active and neurodegenerative langerhans cell histiocytosis: a case report. 2432 3

A 17-year-old male presented for dermatologic consultation with slightly elevated reddish papules covered by yellowish scales in the scalp for the last two years and reddish and indurated ulcers in the perineum lasting six months. Additional complaints included polyuria, polydipsia, delay in the development of secondary sexual characteristics and hearing loss of the right ear secondary to a medium otitis. Lesions from scalp and perineum were sampled for histopathologic examination and revealed a dense cellular infiltrate made up of mononuclear cells with conspicuous eosinophilic cytoplasm and large cleaved vesicular nucleus, some of them with shapes resembling the format of a kidney and others reminiscent of coffee beans. Numerous intermingling eosinophils were present. The diagnosis of Langerhans cell histiocytosis was then rendered and confirmed by positive immunostaining of neo-plastic cells for anti-CD1a and anti-S100 protein antibodies. The work-up revealed diabetes insipidus, hypogonadotropic hypogonadism, hiperprolactenemia, growing-hormone deficiency and thickness of the pituitary stalk. The patient was treated with prednisone and vinblastin based chemotherapy regimen for six months with complete remission, but presented recurrence of some lesions in the scalp, which were handled with topical mustard and corticosteroids. After chemotherapy, the endocrinologic disturbances were corrected with hormonal replacement therapy. The patient is currently in good health with a follow-up of five years.
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PMID:Langerhans cell histiocytosis - a case report. 2476 46

We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH) involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT). He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.
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PMID:Adult multisystem langerhans cell histiocytosis presenting with central diabetes insipidus successfully treated with chemotherapy. 2530

A 39-year-old woman with complains of polydipsia and dieresis was admitted to endocrinology service for evaluation and potential treatment of diabetes insipidus. During the hospitalization, the patient was found to have unexplained fever, for which an FDG PET/CT was performed to explore the source. The images revealed multiple regions of abnormal hypermetabolism throughout the body. Notably, there was an intense activity in the region of pituitary stalk. Pathological results after biopsy showed pituitary involvement of Langerhans cell histiocytosis.
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PMID:Pituitary involvement of langerhans cell histiocytosis in an adult unveiled by FDG PET/CT. 2554 8

A 16-year-old girl was referred for the evaluation of headache exacerbation and progressive loss of visual field from one month ago. She also suffered from intermittent diarrhea since 12 months ago and secondary amenorrhea, headache, weight loss (4 - 5 kg) and weakness from six months ago. She had a history of transient polydipsia and excessive urine output during this period. Brain Magnetic Resonance Imaging (MRI) reported a 15 x 15 x 9 millimeters mass lesion in the sellar region. It was extended to the suprasellar cistern with mild compression of the optic chiasm and mild thickening of the pituitary stalk with posterior displacement were reported. In an exisional biopsy of pituitary stalk lesion, the pathology result was indicative of Langerhans cell histiocytosis (LCH). The patient underwent four periods of chemotherapy with prednisolone and vinblastin in 28-day intervals followed by one cycle of radiation therapy. In three months follow up after treatment the tumor size was reduced, Levothyroxin and Prednisolone were tapered, and pituitary hormones were improved.
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PMID:Pituitary stalk thickening in a case of langerhans cell histiocytosis. 2577 95

Pulmonary Langerhans cell histiocytosis is an uncommon diffuse cystic lung disease in adults. In rare cases, it can involve extrapulmonary organs and lead to endocrine abnormalities such as central diabetes insipidus. A 42-year-old man presented with polyphagia and polydipsia, as well as a dry cough and dyspnea on exertion. Magnetic resonance imaging of the hypothalamic-pituitary system failed to show the posterior pituitary, which is a typical finding in patients with central diabetes insipidus. This condition was confirmed by a water deprivation test, and the patient was also found to have type 2 diabetes mellitus. Computed tomographic scanning of the lungs revealed multiple, irregularly shaped cystic lesions and small nodules bilaterally, with sparing of the costophrenic angles. Lung biopsy through video-assisted thoracoscopic surgery revealed pulmonary Langerhans cell histiocytosis. On a follow-up visit, only 1 year after the patient had quit smoking, clinical and radiological improvement was significant. Here, we report an uncommon case of pulmonary Langerhans cell histiocytosis that simultaneously presented with diabetes insipidus and diabetes mellitus.
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PMID:Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report. 2650 47

Central diabetes insipidus (CDI) and relapse are frequently seen in multifocal Langerhans cell histiocytosis (LCH). We present two females with multifocal LCH who developed CDI 9 and 5 years after the initial diagnosis, respectively, as a relapse limited to the pituitary stalk. Combination chemotherapy with cytarabine reduced the mass in the pituitary stalk. Although CDI did not improve, there has been no anterior pituitary hormone deficiency (APHD), neurodegenerative disease in the central nervous system (ND-CNS) or additional relapse for 2 years after therapy. It was difficult to predict the development of CDI in these cases. CDI might develop very late in patients with multifocal LCH, and therefore strict follow-up is necessary, especially with regard to symptoms of CDI such as polydipsia and polyuria. For new-onset CDI with LCH, chemotherapy with cytarabine might be useful for preventing APHD and ND-CNS.
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PMID:Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis. 2708 6


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