Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. LCH; histiocytosis X; eosinophilic granuloma (formerly); Letterer-Siwe disease Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia. KEY WORDS: Eosinophilic granuloma. Histiocytosis X. Birbeck granules. Granuloma eosinófilo de la orbita: caso clínico y revi- sión de la bibliografía. Resumen.
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La histiocitosis engloba un grupo de afecciones de gran polimorfismo cuya lesión básica es el granuloma histiocítico. El patrón anatomopatológico está. La histiocitosis X es una enfermedad pulmonar intersticial poco común que afecta a adultos jóvenes y se asocia en un elevado número de casos con. Download PDF. More article options Clinical outcomes of pulmonary Langerhans'- cell histiocytosis in adults. N Engl J Med, Determinants of survival in pulmonary Langerhans' cell granulomatosis (histiocytosis X). Eur Respir J, 9.
Several important studies published from to have immensely clarified the biology of LCH. Badalian-Very, Berres, Chakrobarty The cell of origin is a white blood cell known as a dendritic cell, although the historic designation of histiocyte is still used. Children and adults may have LCH in skin macular, papular, ulcerative, or seborrheic rashes , bones painful lytic lesions , lymph nodes, brain pituitary, cerebrum and cerebellum lung, liver, spleen, and bone marrow. Systemic symptoms may include fever, bone pain, weight loss, draining ears, jaundice, diabetes insipidus or other diseases of the endocrine glands, and malaise a general feeling of ill-health. Introduction The preferred name for the condition is Langerhans cell histiocytosis because the cell of origin LC is now known.
Pituitary MRI revealed a sellar mass with suprasellar extension Fig. Subtotal resection was performed, and the histological examination was consistent with ECD. As regards bone involvement, lesions were found in the proximal and distal thirds of the tibia and distal femur in both legs, and the intertrochanteric region of the right femur and humerus, ulna, and radius in both arms.
Histological examination of a bone biopsy from the left lower limb was consistent with the same condition.
During follow-up, the sellar and parasellar masses increased in size, requiring repeat surgery and the subsequent administration of fractionated stereotactic RT. A control pituitary MRI showed an enlargement of the sellar and parasellar masses and the occurrence of tentorial lesions, which required the administration of RT again and the reintroduction of steroid treatment. Treatment was started with anakinra, which was continued for one year with no objective response.
After confirmation of the BRAFVE mutation, the patient started treatment with vemurafenib, which has resulted in marked clinical and laboratory improvement. Figure 2. Sella-suprasellar mass in a patient with Erdheim—Chester disease.
Case 9 This was a year-old male patient who reported polyuria-polydipsia syndrome in Hormonal and biochemical tests showed DI and secondary hypogonadism, for which replacement therapy was started.
Pituitary MRI only showed an absence of hypersignal of the neurohypophysis.
Bilateral exophthalmos occurred in , and computed tomography CT of the orbit showed a retro-orbital mass. Histological examination of a biopsy from the lesion was consistent with ECD. In the extension study, a CT scan of the chest and abdomen revealed retroperitoneal, mediastinal, and adrenal involvement, and a bone scan showed the bilateral involvement of tibia, distal fibula, metatarsus, and tarsus.
Treatment was started with glucocorticoids and azathioprine, with no response.
Thyrotropin deficiency was diagnosed in that same year. Control pituitary MRIs showed no changes. Discussion Histiocytosis is a rare disease of unknown etiology with a very heterogeneous clinical presentation. Diagnosis is not made in a substantial proportion of cases due to the variety of nonspecific symptoms.
Histiocytosis follows an unpredictable course, sometimes consisting of bouts of the disease. The condition may resolve spontaneously or progress to disseminated disease, compromising vital functions with severe and even fatal consequences. In adults, as noted above, the most common non-endocrine signs occur in bone, lung, and skin.
As regards endocrine manifestations, HPA involvement has been reported in Pituitary deficiencies in our study were not exactly comparable to those reported in the literature, which includes patients diagnosed with histiocytosis both with and without HPA involvement.
To our knowledge, few studies have selected only patients with a diagnosis of histiocytosis without endocrine involvement.
Although DI usually develops within one year of histiocytosis being diagnosed, it may precede such diagnosis, or may occur during the course of the disease. DI is usually permanent. Only a few cases of anterior pituitary deficiency without DI have been reported. In this last case, moreover, the deficiencies were reversed after radiation therapy. Gonadotropin deficiency is the second most common deficiency reported in the literature.
As regards thyrotropin deficiency, in some series it is always associated with panhypopituitarism, 10 while in other series it is the third pituitary deficiency in 3.
Few studies have measured prolactin secretion in patients with histiocytosis.
Moderately elevated serum prolactin levels have been reported in adults with LCH, 10 being attributed to infundibular infiltration unrelated to gonadotropin deficiency. The remaining patient had slightly elevated serum prolactin levels but normal pituitary MRI.
In patients with histiocytosis, the most common hypothalamic change is increased appetite with hyperphagia with resultant obesity. Other uncommonly reported nonpituitary endocrine manifestations include primary thyroid involvement due to the infiltration of Langerhans cells, 19 primary hypoparathyroidism in the setting of diffuse thyroid and parathyroid infiltration, 19 ovarian involvement in cases of disseminated disease, 20 adrenal gland infiltration, and direct pancreas involvement in the setting of systemic disease.
In very young people, the outlook depends on the specific histiocytosis and how severe it is. Some children can live a normal life with minimal disease involvement, while others do poorly.
Young children, especially infants, are more likely to have body-wide symptoms that lead to death.
Go to the emergency room if shortness of breath or chest pain develops. Prevention Avoid smoking. Quitting smoking can improve the outcome in people with Langerhans cell histiocytosis that affects the lungs.
There is no known prevention of this disease. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. PMID: Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages.