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Langerhans Cell Histiocytosis of the Ear -.:: Natural Sciences Publishing ABBR journal ….. Vol. 1, No. 1 (2017) Archives of Biological and Biomedical Research An International Journal @ 2017 NSP Natural Sciences Publishing Cor. Langerhans cell histiocytosis of the ear Usama M Rashad 1, Al Hussein Awad Ali 2 and Mahmoud R. Hussein3, * 1,2Departments of ENT (Sohag University) and 3Pathology (Assuit University) * Corresponding author: Mahmoud R. A. Hussein MD, MSc, Department of Pathology, Faculty of Medicine and Assuit University Hospitals, Assiut University, Assiut, Egypt Email address: [email protected] Abstract: Langerhans cell histiocytosis (LCH) is a rare neoplastic lesion characterized by accumulation of cells having major phenotypic features of skin Langerhans cells. It usually affects young children but rare cases were also reported in adults. The clinical spectrum of LCH includes Letterer–Siwe disease, Hand–Schüller–Christian disease, eosinophilic granuloma, Langerhans cell sarcoma as well as intermediate and poorly elucidated forms. Here we address the clinicopathologic features and histogenesis of this condition. Keywords: Ear, temporal bone, Histiocytosis X, tumor 1 Clinicopathologic features of LCH: In 1893, Alfred Hand was the first to disease is a chronic form of the disease report a case of histiocytosis. In 1941, Farber characterized by the triad of bone lesions, described this condition and reported the diabetes insipidus, and exophthalmos as well as overlap among diseases that would later be weeping erythematous eruptions, termed histiocytosis X [1]. Langerhans’ cell papulonodular or granulomatous ulcerations. histiocytosis (LCH), previously known as Eosinophilic granuloma is a localized form histiocytosis X, is a poorly understood characterized by the presence of cutaneous histiocytic disorder. The spectrum of disease lesions (nodulo-ulcerative lesions), lung process (Letterer–Siwe disease, Hand– nodules or bony osteolytic lesions [3]. The term Schüller–Christian disease, eosinophilic “Langerhans cell sarcoma” is used for granuloma, Langerhans cell sarcoma as well as cytologically malignant cases that have an intermediate and poorly elucidated forms) aggressive clinical behavior [4]. LCH may be ranges from the localized form with good associated with malignant lymphoma, outcome to an acute systemic form with a poor leukemia, Myelodysplastic syndrome and outcome. Letterer–Siwe disease is an acute hemophagocytic syndrome. disseminated form of the disease characterized by extensive cutaneous lesions (weeping 2 Histogenesis: erythematous eruptions), hepatosplenomegally, lymphadenopathy, LCH has been previously considered as fever, anemia, lymphadenopathy and osteolytic a reactive polyclonal disease of immune bony lesions [2]. Hand–Schüller–Christian regulation and not a true neoplasm. Recent 30 Histiocytosis X reports, however, has revealed LCH as a clonal LCH of the skull bones as it can accurately proliferation, and therefore attested to its identify bone destruction, soft tissue neoplastic nature [5]. Badalian-Very et al involvement and intra-cranial histiocytosis [1]. reported the oncogenic BRAF V600E mutation Surgical excision of the tumor represents the in 35 of 61 archived specimens. TP53 and MET treatment of choice whereas irradiation is used mutations were also observed in one sample for inaccessible or incompletely resected each. Langerhans cells stained for phospho- lesions [5]. Chen et al examined the mitogen-activated protein kinase kinase clinicopathologic features of LCH of the (phospho-MEK) and phospho-extracellular temporal bone in 22 patients. A single patient signal-regulated kinase (phospho-ERK) belonged to a multisystem high-risk group, regardless of mutation status. The presence of three cases to the multisystem low risk group, BRAF mutations in LCH confirm that it is a and 18 cases to the single system group. Ear neoplastic process that may respond to RAF manifestation and osteolytic lesions of the pathway inhibitors [6]. The development of temporal bones with extensive osteolytic LCH may be linked to cytokine cascade destructions (CT findings). The misdiagnosis (interleukin-3/IL-3, IL-7, granulocyte- rate was 72.7%. Twenty-two cases were macrophage colony-stimulating factor (GM- received different combined modality CSF); the lymphocyte regulatory cytokines IL- therapies. Following up 1 - 15 years, 21 cases 2, IL-4, and IL-10; the inflammatory regulators were survival and 1 case dead, while 5 cases IL-1alpha and tumor necrosis factor-alpha showed residual of insipidus, dwarfism, (TNF-alpha); and the effector cell-activating epilepsy or unilateral serious hearing loss[10]. cytokines IL-5 and interferon-gamma (IFN- gamma) through recruitment, maturation, and 4 Expert commentary: proliferation of LCH cells. These cytokines seem to be involved in the development of Langerhans’cells are specialized other characteristic features of LCH, such as histiocytes with immune functions similar to fibrosis, necrosis, and osteolysis [7]. other dendritic cells and macrophages. The Interestingly, Human herpesvirus-6 (HHV-6) pathophysiology of LCH is poorly understood. and Epstein–Barr virus have been detected in Although the etiology of LCH is unclear, some cases [8].The serum S100-b level is several theories exist regarding this condition. elevated in this disease and may prove to be a Pathologic Langerhans’ cells are thought to be useful marker to monitor the progress of the derived from precursor cells or through disease [9]. alteration of normal histiocytes. 3 Langerhans cell histiocytosis of the ear: 5 Five-year view: LCH usually affects young children, Identification of a putative myeloid some adolescents, and a few young adults. The progenitor in the ontogeny of LCs [12], classic presentation of the head and neck region together with the detection of a rapidly involves lytic lesions of bone, particularly of accelerated fibrosarcoma isoform B the skull. Other common sites include middle (BRAF)V600E gain of-function mutation [6], ear and temporal bone. On radiology, the suggest that LCH may be a myeloid neoplasm. lesions appear as single or multiple sharply The pathogenic role of the intralesional circumscribed lytic lesions [10]. This disease “cytokine storm” [7] in the progression of LCH is easily misdiagnosed as mastoiditis, otitis provides new opportunities for targeted media and otitis externa[11]. Treatment options therapy, contributing to change the clinical include excision (curettage), low dose radiation management of patients. Any lytic lesion of the therapy or chemotherapy (if systemic process). temporal bone identified by radiology should CT plays an important role in the diagnosis of raise suspicion for LCH. 31 Histiocytosis X The right post auricular area was minimally diffusely swollen and tender. Eye 6 Key issues: examination showed left axial forward proptosis without limitation of eye movements. LCH has a wide range of clinical Chest and heart were clinically free. HRCT outcomes. Some cases of LCH are self-limited, temporal bone revealed soft tissue density whereas others affect multiple organs and swelling filling the right mastoid with erosion cause significant morbidity and mortality. The of the dural and sinus plates and erosion of the outcome of the disease depends upon the age of posterior meatal wall bone with extension of the patient, the extent of the disease and the the swelling to fill the external auditory canal magnitude of organ involvement. (Figure 1). Reference annotations: Differential diagnosis included lymphoma, sarcomas (including Ayadi K, Driss N, Hattab N, et al. [A rare cause rhabdomyosarcoma), Extraskeletal Ewing’s of multiple lacunae of the cranial vault and sarcoma/Primitive neuroectodermla tumor, temporal bone in adults: histiocytosis X]. synovial sarcoma, LCH or a metastatic disease. Journal de radiologie. 1994;75:433-435. Biopsy was taken from the granulation tissues in the external auditory canal. On histology, The skull bones, especially the temporal bone, sections showed a cellular lesion composed of are involved in LCH [1] clusters of Langerhans cells, which have moderate eosinophilic cytoplasm, kidney- Badalian-Very G, Vergilio JA, Degar BA, et shaped nuclei with indentations, vesicular al. Recurrent BRAF mutations in Langerhans chromatin with small nucleoli. cell histiocytosis. Blood. 2010;116:1919-1923. These neoplastic cells were admixed Oncogenic BRAF V600E mutation were with inflammatory cell infiltrate including detected in some cases of LCH[6] neutrophils, plasma cells, lymphocytes, variable foamy histiocytes and multinucleated Case Report: giant cells. The neoplastic cells were reactive for S100, and CD1a. Negative stains included A three and half-year-old boy presented Myogenin, CD45 and synaptophysin. The to the ENT OPD with history of recurrent reactive histiocytes and the multinucleated attacks of right sided blood tinged ear discharge cells are reactive CD68. The diagnosis of LCH four months ago without any history of prior was established. common cold or chronic nasal obstruction. There was a history of left eye protrusion two Treatment consisted of induction months ago, polyurea, polydepsia and frequent therapy 6 cycles, one cycle every week of teeth loss. The patient's general condition was vinblastin a steroid followed by maintenance fine. ENT examination revealed normal nasal, therapy for one year, one cycle every 21 days oral and pharyngeal condition. (single dose of vinblastin and 5 days of steroids). Follow-up of the patient without The left ear examination revealed no complications or recurrence
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