Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia
(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 t...
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| Format: | Article |
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MDPI AG
2023-03-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/13/7/1239 |
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| author | Francesco Ruben Giardino Roberto Cuomo Mirco Pozzi Gianluca Marcaccini Stefano Bacchini Mohamed Marzouk El Araby Luca Grimaldi Giuseppe Nisi |
| author_facet | Francesco Ruben Giardino Roberto Cuomo Mirco Pozzi Gianluca Marcaccini Stefano Bacchini Mohamed Marzouk El Araby Luca Grimaldi Giuseppe Nisi |
| author_sort | Francesco Ruben Giardino |
| collection | DOAJ |
| description | (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 <i>iter</i> 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. |
| first_indexed | 2024-03-11T05:40:21Z |
| format | Article |
| id | doaj.art-f7ebfa0f1f13440a951d9ac091e64a17 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-11T05:40:21Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-f7ebfa0f1f13440a951d9ac091e64a172023-11-17T16:29:47ZengMDPI AGDiagnostics2075-44182023-03-01137123910.3390/diagnostics13071239Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe GynecomastiaFrancesco Ruben Giardino0Roberto Cuomo1Mirco Pozzi2Gianluca Marcaccini3Stefano Bacchini4Mohamed Marzouk El Araby5Luca Grimaldi6Giuseppe Nisi7Surgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, ItalySurgery and Neuroscience—Plastic Surgery Unit, Department of Medicine, University of Siena, Policlinico Santa Maria “Le Scotte”, 53100 Siena, Italy(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 <i>iter</i> 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.https://www.mdpi.com/2075-4418/13/7/1239Erdheim–Chester diseasegynecomastiahistiocytosis xmastectomybreast disease |
| spellingShingle | Francesco Ruben Giardino Roberto Cuomo Mirco Pozzi Gianluca Marcaccini Stefano Bacchini Mohamed Marzouk El Araby Luca Grimaldi Giuseppe Nisi Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia Diagnostics Erdheim–Chester disease gynecomastia histiocytosis x mastectomy breast disease |
| title | Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia |
| title_full | Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia |
| title_fullStr | Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia |
| title_full_unstemmed | Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia |
| title_short | Erdheim–Chester Disease of the Breast: First Review and First Case of Isolated Severe Gynecomastia |
| title_sort | erdheim chester disease of the breast first review and first case of isolated severe gynecomastia |
| topic | Erdheim–Chester disease gynecomastia histiocytosis x mastectomy breast disease |
| url | https://www.mdpi.com/2075-4418/13/7/1239 |
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