Breast
Congenital anomalies
Amastia / aplasia / hypoplasia / athelia
Author: Hind Warzecha, M.D.
Last author update: 1 July 2010
Last staff update: 21 June 2020
Copyright: 2002-2023, PathologyOutlines.com, Inc.
PubMed Search: Breast amastia aplasia hypoplasia
Table of Contents
Definition / general | Epidemiology | Sites | Etiology | Case reports | Treatment | Clinical imagesCite this page: Warzecha H. Amastia / aplasia / hypoplasia / athelia. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/breastamastia.html. Accessed September 30th, 2023.
Definition / general
- Amastia: no glandular tissue (no breast bud), no nipple and no areola
- Aplasia: nipple and areola present but no glandular tissue
- Athelia: very rare; breast glandular tissue but no nipple or areola (Wikipedia: Athelia (Disease)); also a genus of fungi
- Hypoplasia: small rudimentary breasts (i.e. breast underdevelopment); also called micromastia
Epidemiology
- Uncommon
- Occurs more often in females than males
Sites
- Unilateral or bilateral
Etiology
- Can be acquired or congenital
- Amastia occurs when breast anlage is destroyed in the embryo
- Amastia and hypoplasia are both associated with Poland syndrome (musculoskeletal deformities of chest wall and ipsilateral upper extremity, eMedicine: Poland Syndrome [Accessed 17 August 2018], OMIM: Poland Syndrome [Accessed 17 August 2018]); also damage to breast bud by surgery (Postgrad Med J 2003;79:235) or radiation (Acta Oncol 1989;28:519)
- Athelia:
- Associated with Poland syndrome (musculoskeletal deformities of chest wall and ipsilateral upper extremity, eMedicine: Poland Syndrome, OMIM: Poland Syndrome)
- Part of scalp ear nipple (Finlay-Marks) syndrome (Br J Dermatol 1978;99:423)
- Associated with carbimazole use for thyrotoxicosis during pregnancy (Am J Med Genet 1998;75:220)
- Associated with focal dermal hypoplasia (Clin Genet 2008;73:373)
- Ipsilateral breast hypoplasia is associated with Becker nevus (Indian J Dermatol Venereol Leprol 2009;75:202)
- Coexistence of skin and breast lesions (see case reports below) may be due to their common embryologic origin
Case reports
- Newborn girl with choanal atresia, renal tubulopathy and family history of neck cysts, who died shortly after birth (Am J Med Genet A 2007;143A:1231)
- 3 year old girl with bilateral athelia, congenital jejunal atresia and choanal atresia (Clin Dysmorphol 2006;15:37)
- 9 year old girl with multiple lentigines over nevus depigmentosus and hypoplasia of underlying breast (Dermatol Online J 2004;10:12)
- 26 year old woman with bilateral amastia and ectodermal dysplasia (Case Rep Med 2009;2009:927354)
Treatment
- Breast augmentation surgery (Semin Pediatr Surg 2008;17:161, Acta Chir Plast 2001;43:39)
Clinical images
Images hosted on other servers:
Amastia in 11 year old girl
Hypoplasia in 9 year old girl
(fig 1)
Becker nevus with hypoplasia
Hypoplasia of right breast
26 year old woman:
Preoperative of bilateral amastia
