Rare Gastroenterology News

Disease Profile

Granulomatous lobular mastitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Idiopathic granulomatous lobular mastitis

Categories

Female Reproductive Diseases

Summary

Granulomatous lobular mastitis is a rare inflammatory disease of the breast. This disease usually affects women of child-bearing age or those who use oral contraceptive medication. It can be confused with breast cancer, so it is often misdiagnosed and proper treatment is delayed.[1][2][3] The main symptoms include a palpable mass, skin or nipple retraction, and pain and swelling in the breast. Core needle biopsy is the recommended method for diagnosis and must be made in all cases, to rule-out breast cancer and other causes of granulomatous mastitis (such as infections (bacterial, fungal, mycobacterial), sarcoidosis, and other systemic granulomatous diseases). After ruling-out these diseases, the diagnosis of idiopathic “granulomatous lobular mastitis” is made. The cause is unknown, but may be autoimmune. Some cases are associated with Corynebacterium infection (when it is known as cystic neutrophilic granulomatous mastitis).[3][4] There is no established treatment, but antibiotics, corticosteroids, drainage, excision, and surgical removal of the lesion have been tried with variable success.[1][2][5] 

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Granulomatous lobular mastitis. Click on the link to view a sample search on this topic.

References

  1. Larsen LJH, Peyvandi B, Klipfel N, Grant E & Iyengar G. Granulomatous Lobular Mastitis: Imaging, Diagnosis, and Treatment. Granulomatous Lobular Mastitis: Imaging, Diagnosis, and Treatment. American Journal of Roentgenology. 2009; 193:2:574-581:. https://www.ajronline.org/doi/full/10.2214/AJR.08.1528.
  2. Hur SM & cols.. Experience of treatment of patients with granulomatous lobular mastitis. Journal of the Korean Surgical Society. 2013; 85(1):1-6:. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699681/.
  3. Mahlab-Guri K, Asher I, Allweis T, Diment J, Sthoeger ZM & Mavor E. Granulomatous Lobular Mastitis. Isr Med Assoc J. August, 2015; 17(8):476-80. https://www.ima.org.il/FilesUpload/IMAJ/0/164/82274.pdf.
  4. D’Alfonso TM, Ginter PS & Shin SJ. A Review of Inflammatory Processes of the Breast with a Focus on Diagnosis in Core Biopsy Samples. Journal of Pathology and Translational Medicine. 2015; 49(4):279-287. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4508565/.
  5. D'Alfonso TM, Moo TA, Arleo EK, Cheng E, Antonio LB & Hoda SA. Cystic Neutrophilic Granulomatous Mastitis: Further Characterization of a Distinctive Histopathologic Entity Not Always Demonstrably Attributable to Corynebacterium Infection. Am J Surg Pathol. October, 2015; 39(10):1440-7. https://www.ncbi.nlm.nih.gov/pubmed/26200100.