A rare case of Erdheim-Chester disease in the breast

Binyousef, Razan F.; Al-Gahmi, Aboelkhair; Khan, Zahid; Rawah, Elham

doi:10.5144/0256-4947.2017.79

Cited by 25 publications

(15 citation statements)

References 10 publications

(26 reference statements)

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“…Prognosis is highly variable and depends on the extra-skeletal lesions involved. Due to the variable presentation of ECD, delayed diagnosis is typical, which can lead to high morbidity and mortality rates [6]. Unfortunately, treatment is not typically successful but includes medications that help control overproduction of histiocytes.…”

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester Disease: Multisystem involvement

Konstantopoulos¹,

Gill²

2020

JCR

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Background: Erdheim-Chester disease is a rare disease characterized by multi-organ infiltration of non-Langerhans cell histiocytes. The diagnosis can be difficult and a high index of suspicion is required to combine the constellation of multi-organ imaging features. Recent research has detected a mutated proto-oncogene BRAFV600E in over half of the cases. Case Report: We report a case of a 75-year-old woman who presented with 5 months of left knee pain. On further workup, she was found to have to multi-organ involvement for Erdheim-Chester disease. Conclusion: Erdheim-Chester disease requires a high index of suspicion along with awareness of the various clinical and radiological manifestations for accurate diagnosis.

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Section: Discussionmentioning

confidence: 99%

Erdheim-Chester Disease: Multisystem involvement

Konstantopoulos¹,

Gill²

2020

JCR

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“…Our case presented after 4 years of complaining of bone pain. The rarity and variable presentation of this disease usually leads to delayed diagnosis and to high morbidity and mortality rates from associated complications [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…In this paper, we present an aggressive form of ECD and discuss this rare entity including its clinical course, diagnostic challenge, treatment options and response of our patient to first-line treatment, and disease status after 1 year from the first dose. To the best of our knowledge, this is the third case from Saudi Arabia [ 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature

Alotaibi¹,

Alhafi²,

Nasr³

et al. 2017

Case Rep Oncol

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Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40–60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in more than 50% of cases. The multisystemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin. Current available treatment is interferon alpha as the first line of treatment. Treatment with other agents is based on anecdotal case reports. Cladribine, anakinra, and vemurafenib (BRAF inhibitor) are currently advocated as promising second-line treatments for patients whose response to interferon alpha is unsatisfactory. Herein, we are reporting a middle-aged Saudi male patient with an aggressive type of ECD and highlighting the clinical, radiological, and pathological manifestations associated with ECD and the various treatment options and patient follow-up.

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“…Only 500 cases of ECD were identified worldwide. There are no sufficient studies reporting the incidence of ECD in Saudi Arabia except for two case reports [ 6 , 7 ]. Clinical presentation can vary from asymptomatic tissue infiltration and bone pain to multiorgan failure.…”

Section: Discussionmentioning

confidence: 99%

Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement

Amer

Qubaiban

Bakhsh

2017

Case Reports in Neurological Medicine

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Polyostotic sclerosing histiocytosis, also known as Erdheim-Chester disease (ECD), is a rare form of non-Langerhans histiocytosis. ECD has wide clinical spectrums which mainly affect skeletal, neurological, dermatological, retroperitoneal, cardiac, and pulmonary manifestations. Here we describe a case of ECD in a 45-year-old female who presented initially with bilateral knee pain and homonymous superior quadrantanopia progressed to ophthalmoplegia and complete visual loss of the left eye over a period of one year. Plain X-ray of both knees showed bilateral patchy sclerosis of the distal femur and upper parts of the tibiae. Initial brain magnetic resonance imaging (MRI) showed bilateral enhancing masses in the temporal lobes anterior to the temporal horns, thickening of the pituitary stalk, partially empty sella, and involvement of the left cavernous sinus one year later. Our case is a peculiar case of ECD initially presented with unilateral homonymous superior quadrantanopia due to involvement of the visual apparatus in the mesial temporal lobe which progressed to unilateral ophthalmoplegia and total visual loss secondary to involvement of the cavernous sinus. Thus, the diagnosis of ECD should be kept in mind in the presence of bilateral bone sclerotic lesions.

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A rare case of Erdheim-Chester disease in the breast

Cited by 25 publications

References 10 publications

Erdheim-Chester Disease: Multisystem involvement

Erdheim-Chester Disease: Multisystem involvement

Erdheim-Chester Disease: Case Report with Aggressive Multisystem Manifestations and Review of the Literature

Homonymous Superior Quadrantanopia due to Erdheim-Chester Disease with Asymptomatic Pituitary Involvement

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