Erdheim Chester disease presented isolated breast and axillary involvement

Başara, Işıl; YAVUZ, Esranur; Balci, Pınar; Tuna, Emine Burçin; Sarı, İ̇smail

doi:10.5334/jbr-btr.771

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…Biopsy samples typically reveal infiltrating foamy histiocytes that are positive for cluster of differentiation (CD) 68 and CD1a surface markers [ 12 13 ]. Differential diagnoses based on histology include other histiocytic lesions such as fat necrosis, panniculitis, granulomatous lobular mastitis, Langerhans cell histiocytosis, and Rosai-Dorfman disease [ 14 15 ]. In particular, excluding the histiocytic variant of invasive lobular carcinoma is essential as it represents a critical differential diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, excluding the histiocytic variant of invasive lobular carcinoma is essential as it represents a critical differential diagnosis. Distinguishing features favoring ECD over histiocytoid carcinoma include the absence of atypical nuclei, immunoreactive cytokeratin, and other epithelial markers, including the epithelial membrane antigen [ 14 15 16 ].…”

Section: Discussionmentioning

confidence: 99%

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Rare Case of a Patient With Erdheim-Chester Disease Presenting With Atypical Breast Involvement

Sprenger,

Pecorari,

Filho

et al. 2024

J Breast Cancer

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Erdheim-Chester disease (ECD) is a rare multisystem disorder characterized by mitogen-activated protein kinase (MAPK) pathway mutations. Herein, we present a unique case of ECD in a 79-year-old female with predominant breast nodules. Comprehensive imaging and histopathological evaluations confirmed the diagnosis. Mammography and ultrasonography revealed multiple hyperdense circumscribed nodules with coalescing masses and blurred margins. Core biopsy revealed infiltrating foamy cluster of differentiation (CD) 68+ and CD1a+ histiocytes. Because the tumor was negative for the BRAF V600E mutation, treatment with interferon-α was initiated. This case highlights the diagnostic challenges associated with ECD, the rarity of breast involvement, and the importance of considering ECD in the differential diagnosis of atypical breast lesions. Comprehensive imaging, histopathology, and genetic testing are essential for accurate diagnosis and treatment decision-making in ECD. Further research and awareness are required to improve recognition and management of this rare disease.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Rare Case of a Patient With Erdheim-Chester Disease Presenting With Atypical Breast Involvement

Sprenger,

Pecorari,

Filho

et al. 2024

J Breast Cancer

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“… 3 ECD involvement of the breast can be incidentally discovered as it was reported by Furuta et al 4 In all cases, extramammary involvement was found at the time of presentation except for one recent case reported by Basara et al, where there was bilateral isolated breast involvement. 5 …”

Section: Discussionmentioning

confidence: 99%

A rare case of Erdheim-Chester disease in the breast

Binyousef

Al-Gahmi

Khan

et al. 2017

Annals of Saudi Medicine

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Erdheim-Chester disease (ECD) is rare non-Langerhans histiocytosis with distinctive radiologic and pathologic entities. We report a rare case of which ECD was involving the breast with only eight similar cases reported in the English literature. Our patient was a 52-year-old female patient with ECD involving the breast, mesentery, left kidney, retroperitoneum and the skeleton. The diagnosis was based on distinctive imaging and histopathological findings. The patient received a new novel treatment as part of a clinical trial in the United States and showed clinical and radiological improvement.

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Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia

et al. 2023

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(1) Introduction: Erdheim–Chester disease (ECD) is a life-threatening condition and often a diagnostic challenge. It has recently been classified as a hematopoietic tumour, and the cases of ECD reported in the literature has dramatically increased during the last 15 years. (2) Methods: We describe the case of a 57-year-old male patient with severe gynecomastia, with a detailed description of his diagnostic iter and consequent surgical operation. We provide the first systematic review of the literature of breast involvement in ECD, following PRISMA guidelines, including 13 studies and 16 patients. (3) Results: Our report resulted to be the first case of gynecomastia as a single clinical and imaging feature of ECD described in English literature. A total of 81.3% of patients included were female. Among them, 76.9% had unilateral and nodular presentation, while male patients presented bilateral heterogeneous breast enlargement. Globally, 87.5% expressed breast alterations as their first manifestations of ECD. Only 50% presented skeletal involvement. (4) Conclusion: The reported case represents a unique addition to the literature. We found two different patterns in ECD-related breast involvement between male and female patients, an unusual M/F ratio, and a lower rate of bone involvement. Breast involvement is frequently the first clinical feature; therefore, breast caregivers should be aware of this dangerous and most likely underestimated condition.

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Erdheim Chester disease presented isolated breast and axillary involvement

Cited by 3 publications

References 8 publications

Rare Case of a Patient With Erdheim-Chester Disease Presenting With Atypical Breast Involvement

Rare Case of a Patient With Erdheim-Chester Disease Presenting With Atypical Breast Involvement

A rare case of Erdheim-Chester disease in the breast

Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia

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