(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.

Giardino, F.R., Cuomo, R., Pozzi, M., Marcaccini, G., Bacchini, S., Marzouk El Araby, M., et al. (2023). Erdheim-Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia. DIAGNOSTICS, 13(7) [10.3390/diagnostics13071239].

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

Giardino, Francesco Ruben;Cuomo, Roberto
Writing – Review & Editing
;
Pozzi, Mirco;Marcaccini, Gianluca;Bacchini, Stefano;Marzouk El Araby, Mohamed;Grimaldi, Luca;Nisi, Giuseppe
2023-01-01

Abstract

(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.
2023
Giardino, F.R., Cuomo, R., Pozzi, M., Marcaccini, G., Bacchini, S., Marzouk El Araby, M., et al. (2023). Erdheim-Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia. DIAGNOSTICS, 13(7) [10.3390/diagnostics13071239].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1231695