Erdheim-Chester disease: a sinonasal lesion mimicking rhinoscleroma

Marsot-Dupuch, K; Hir, Pierre Le

doi:10.1007/s002340000351

Cited by 10 publications

(3 citation statements)

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“…In the appropriate clinical settings, Graves disease, Langerhans cell histiocytosis, lymphoma, sarcoidosis, and Sjogren’s disease should also be considered in this context [10,39]. An ECD meningeal lesion may be mistaken for a meningioma [10,40,41] and ECD sinonasal lesions may mimic rhinoscleroma [42]. …”

Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

220

309

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Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. The etiology of ECD is unknown yet thought to be associated with an intense TH1 immune response. It may also be associated with the V600E BRAF mutation, as described in as many as half of the patients in recent studies. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen. At present, this obscure ailment embodies numerous challenges to medical science. Given its rarity, it is diagnostically elusive and requires a high level of clinical suspicion. Therapeutically, it is of limited alternatives. Currently, interferon-α is the most extensively studied agent in the treatment of ECD and serves as the first line of treatment. Treatment with other agents is based on anecdotal case reports and on the basis of biological rationale. Nevertheless, cladribine (2CDA), anakinra and vemurafenib are currently advocated as promising second line treatments for patients whose response to interferon-α is unsatisfactory. Overall, the 5 year survival of ECD is 68%. Herein, the authors mustered and brought about a panoramic consolidation of all the relevant facts regarding ECD. This work highlights the different clinical, radiological and pathological manifestations associated with ECD, the differential diagnoses, the various treatment options and the acknowledged science explaining the disease.

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Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: a comprehensive review of the literature

Mazor

Manevich-Mazor

Shoenfeld

2013

Orphanet J Rare Dis

220

309

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“…Scleroma may extend into the maxillary sinus through the ostiomeatal unit in 40% of patients with nasal scleroma [14,15]. Also, scleroma has been reported in the sphenoid and ethmoid sinus with intracranial extensions [15].…”

Section: Nasal and Paranasal Sinus Scleromamentioning

confidence: 99%

Imaging of scleroma in the head and neck

Razek¹

2012

BJR

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We review the appearance of scleroma in the head and neck on imaging. Scleroma is a chronic granulomatous disease that primarily affects the nasal cavity, but the pharynx and larynx may also be involved. On imaging, nasal scleroma appears as bilateral or unilateral expanded homogeneous nasal masses that may exhibit hyperintense signal on T(1) weighted images. Pharyngeal scleroma commonly narrows the pharyngeal lumen and may involve the soft and hard palate. Imaging is essential to detect the extent of subglottic stenosis in patients with laryngeal scleroma. Rarely, scleroma may involve the orbit or the middle ear. Imaging is essential for the early diagnosis of scleroma and for differentiating it from other granulomatous and neoplastic lesions. Also, imaging is important for treatment planning and follow-up of patients after therapy.

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“…8 ECD is a multisystem disease, with patients displaying extra-axial osteosclerosis, perirenal infiltration, diabetes insipidus, interstitial lung disease, central nervous system (tumoral or degenerative cerebellum) involvement, exophthalmos, 9 atrial pseudotumor and aorta impairments. 4 Ear, nose and throat (ENT) involvement has been little described but the manifestations reported include bilateral sensorineural hearing loss secondary to internal auditory canal infiltration, 10 external auditory canal (EAC) stenosis, 11,12 a condition mimicking rhinoscleroma, 13 nasal mass 11 and maxillary sinus and facial bone sclerosis. 8 Our aim in this study was to calculate the prevalence of sinonasal and ear involvement in a population of ECD patients to describe the various ENT manifestations observed and to investigate the associations between ENT manifestations, the involvement of other organs and BRAF mutations.…”

Section: Introductionmentioning

confidence: 99%

Sinonasal and ear manifestations of Erdheim‐Chester disease

et al. 2023

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SummaryTo calculate the prevalence of sinonasal and ear involvement in an Erdheim‐Chester disease (ECD) population, to describe the different ear, nose and throat (ENT) manifestations and to study the association between ENT involvement, other organ involvement, and BRAF mutations. We led a retrospective monocentric study in the national referral center for ECD. One hundred and sixty‐two patients with ECD and ENT data were included between January 1, 1980 and December 31, 2020. Ear and nose clinical and radiological findings were noted. We described and studied the prevalence of ENT involvement in ECD population. The association between sinonasal and ear involvement, other organ involvement, and BRAF mutations was calculated. The prevalence of ENT manifestations is around 45%. No clinical rhinologic or otologic signs were specific to ECD. Sinus imaging was abnormal in 70% of cases. A bilateral maxillary sinus frame osteosclerosis was highly specific of ECD. Associations were found between the sinus MRI imaging type and BRAF status, central nervous system involvement, cerebellum involvement and xanthelasma. Sinonasal or ear involvement is frequent in ECD and has specific imaging features for sinuses.Trial registration: #2011‐A00447‐34.

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Erdheim-Chester disease: a sinonasal lesion mimicking rhinoscleroma

Cited by 10 publications

References 0 publications

Erdheim-Chester Disease: a comprehensive review of the literature

Erdheim-Chester Disease: a comprehensive review of the literature

Imaging of scleroma in the head and neck

Sinonasal and ear manifestations of Erdheim‐Chester disease

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