Enfermedad de Erdheim-Chester, una gran imitadora. Presentación de casos y revisión de la literatura

Rascón-Ramírez, Fernando J.; Avecillas-Chasín, Josué M; Rodríguez-Boto, G.; Subhi-Issa, Issa; Salazar, Osman; D., Kita Sallabanda

doi:10.1016/j.neucir.2016.02.009

Cited by 7 publications

(5 citation statements)

References 10 publications

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“…Though symmetrical diaphyseal/metaphyseal cortical osteosclerosis of the lower extremity long bones is typical of ECD, cases without bone involvement have been reported in literature [3][4][5][6], and the absence of bone involvement should not deter the clinician from considering this possibility. Moreover, bone involvement may not be the first manifestation of the disorder and may be asymptomatic in up to 50% of the patients [10].…”

Section: Discussionmentioning

confidence: 99%

“…Though the disease is classically defined based on the above criteria, cases without skeletal involvement have been identified in literature on the basis of the classic xanthogranulomatous pathology and immunohistochemical staining pattern [3][4][5][6]. In fact, the disease without skeletal involvement is a distinct subset of ECD in the revised histiocytosis classification [2].…”

Section: Introductionmentioning

confidence: 99%

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Localized Erdheim-Chester disease involving the thyroid gland—a case report

Singh

Gautam

et al. 2021

Egypt J Otolaryngol

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Background Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder of unknown etiology. Isolated neck involvement has not been reported in literature. Case presentation An elderly male presented to our outpatient department with neck swelling of 1-month duration. Contrast-enhanced CT scan of the neck showed a mass involving the left thyroid/perithyroidal tissue with encirclement of the common carotid artery. Tru-Cut biopsy with immunohistochemistry showed CD68+, CD1a- histiocytic infiltrates with Touton giant cells compatible with ECD. BRAFV600E mutation came out to be positive. PET-CT did not reveal involvement of any other body organs. After counseling for further treatment options, the patient chose to follow up without any active treatment. The disease has not progressed at a follow-up of 1 year. Conclusion We present a case of ECD involving the thyroid gland in isolation. Absence of other organ involvement should not deter the treating physician from considering the possibility of ECD. Immunohistochemistry and testing for BRAFV600E mutation are important from the diagnostic as well as potential therapeutic point of view.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Localized Erdheim-Chester disease involving the thyroid gland—a case report

Singh

Gautam

et al. 2021

Egypt J Otolaryngol

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“…However, the fact that we did not find appendicular bone involvement, reported as nearly always being present in histiocytosis, including ECD, 5 87 90 92–103 made us think of histiocytosis as a remote aetiology. Despite the fact that some cases of delayed 104 or lacking 105 bone involvement have been described, absence of bone involvement has meant that ECD was only diagnosed postmortem in some patients. 106 Consequently, ECD should not be ruled out because of the absence of appendicular bone involvement.…”

Section: Discussionmentioning

confidence: 99%

Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease

et al. 2018

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A 69-year-old woman suffering from exophthalmos and facial pain came to us referred for aetiological diagnosis of exophthalmos. Orbital MRI showed thinned extrinsic ocular musculature, intraconal fat infiltration, retro-ocular compression and thickening of maxillary and sphenoid sinus walls. She had been suffering from diabetes insipidus for the last 7 years. During our diagnosis process, she presented signs of cardiac tamponade. Transthoracic heart ultrasound revealed large pericardial effusion and a heterogeneous mass that compressed the right ventricle. No osteosclerotic lesions on appendicular bones were present. Pericardiocentesis temporarily controlled tamponade and corticoid therapy temporarily abated exophthalmos. Pericardiectomy definitively resolved tamponade. Histological examination of pericardial tissue was conclusive of Erdheim-Chester disease. Exophthalmos responded to pegylated interferon-alpha-2a. Facial bone pain disappeared after zoledronic acid and interferon treatment. During interferon therapy, the patient suffered from a severe generalised desquamative exanthema that slowly resolved after discontinuing interferon. Diabetes insipidus remains controlled with desmopressin.

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“…La EEC conforma el grupo de las enfermedades raras según la European Rare Disease Organization y la National Organization for Rare Disorders. Para el año 2014, el número total de casos reportados fue 550, la gran mayoría de ellos diagnosticados en la última década y continúa en crecimiento debido a un aumento en el reconocimiento de la enfermedad (5). Oskaya y cols., reportaron mutaciones en los genes BRAF en el 65% de los pacientes con EEC y en del gen MAP2K1 en el 16%.…”

Section: Contribución De Los Autoresunclassified

“…A pesar de ser una histiocitosis, se considera una condición extremadamente infrecuente en la edad pediátrica, siendo más común en la adultez 4 ; es parte del grupo de las enfermedades raras, según la European Rare Disease Organization y la National Organization for Rare Disorders . En el 2014, el número total de casos reportados fue de 550, la gran mayoría de ellos diagnosticados en la última década, cifra que sigue aumentando debido al reconocimiento de la enfermedad 5 .…”

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Enfermedad de Erdheim-Chester: primer caso pediátrico reportado en Colombia

et al. 2021

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La enfermedad de Erdheim-Chester (EEC) es una entidad extremadamente rara en edad pediátrica. Se presenta el caso de una niña de 12 años, con diagnóstico histológico y radiológico de enfermedad de Erdheim-Chester multisistémica, mutación en el gen BRAF y adecuada respuesta al tratamiento con dabrafenib. Hasta el momento se han reportado 22 casos pediátricos en el mundo y este es el segundo caso reportado en Latinoamérica. Se observó el hallazgo radiológico denominado signo oscuro paraselar o dark sign, hasta ahora, descrito en pacientes con hipofisitis autoinmune para diferenciarlos de aquellos con adenomas hipofisarios. Este reporte contribuye a la literatura médica en dos aspectos fundamentales: manifestaciones clínicas de la EEC y diagnóstico de la enfermedad en la población pediátrica.

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Enfermedad de Erdheim-Chester, una gran imitadora. Presentación de casos y revisión de la literatura

Cited by 7 publications

References 10 publications

Localized Erdheim-Chester disease involving the thyroid gland—a case report

Localized Erdheim-Chester disease involving the thyroid gland—a case report

Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease

Enfermedad de Erdheim-Chester: primer caso pediátrico reportado en Colombia

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