Amazia
Citation, DOI, disclosures and article data
At the time the article was created Avni K P Skandhan had no recorded disclosures.
View Avni K P Skandhan's current disclosuresAt the time the article was last revised Tariq Walizai had no financial relationships to ineligible companies to disclose.
View Tariq Walizai's current disclosuresAmazia is a rare congenital condition defined by the absence of breast tissue (glandular parenchyma in either one or both of the breasts) and a normal nipple and areola complex. However, the most common etiology of amazia is iatrogenic; biopsy of the developing breast and the use of radiation therapy to treat hemangioma or intrathoracic pathology in prepubertal girls can lead to amazia 4,5.
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Epidemiology
This is a very rare entity and the true prevalence is not known. Although there are strict definition criteria, the diagnosis is often made clinically, where there may be overlap (see related conditions below) 2.
One case with associated bilateral choanal atresia has been reported 3,6.
Associations
congenital athelia
unilateral brachysyndactyly
Pathology
The diagnosis of amazia by the absence of glandular breast tissue with preserved nipple and areola complex can be done by ultrasound or mammography.
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See also
amastia: complete absence of breast tissue and areolar-nipple complex
References
- 1. Guray M, Sahin AA. Benign breast diseases: classification, diagnosis, and management. Oncologist. 2006;11 (5): 435-49. Oncologist (full text) - doi:10.1634/theoncologist.11-5-435 - Pubmed citation
- 2. Dreifuss SE, Macisaac ZM, Grunwaldt LJ. Bilateral congenital amazia: a case report and systematic review of the literature. J Plast Reconstr Aesthet Surg. 2014;67 (1): 27-33. doi:10.1016/j.bjps.2013.06.048 - Pubmed citation
- 3. Papadimitriou A, Karapanou O, Papadopoulou A et-al. Congenital bilateral amazia associated with bilateral choanal atresia. Am. J. Med. Genet. A. 2009;149A (7): 1529-31. doi:10.1002/ajmg.a.32935 - Pubmed citation
- 4. Nso-Roca AP, Aguirre-Balsalobre FJ, Juste Ruiz M. Isolated unilateral amazia: an exceptional breast anomaly. J Pediatr Adolesc Gynecol. 2012 Dec;25(6):e147-8. doi: 10.1016/j.jpag.2012.08.002. Epub 2012 Oct 23. PMID: 23095527.
- 5. Unilateral Amazia. (2015) Indian Journal of Surgery. 77 (3): 239. doi:10.1007/s12262-013-0830-7
- 6. Baban A, Torre M, Bianca S et al. Poland Syndrome with Bilateral Features: Case Description with Review of the Literature. American J of Med Genetics Pt A. 2009;149A(7):1597-602. doi:10.1002/ajmg.a.32922 - Pubmed
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