Pathology Outlines

Breast - nonmalignant
Congenital anomalies
Athelia

Author: Nat Pernick, M.D. (see Authors page)

Revised: 24 July 2017, last major update March 2010

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Athelia

Table of Contents

Definition / general | Terminology | Epidemiology | Case reports | Clinical images

Cite this page: Athelia. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/breastathelia.html. Accessed August 17th, 2017.

Definition / general

Very rare; breast glandular tissue but no nipple or areola
Also a genus of fungi
References: Wikipedia: Athelia (Disease)

Terminology

See also amastia / aplasia / hypoplasia

Epidemiology

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)

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)
Associated with focal dermal hypoplasia (Clin Genet 2008;73:373)

Clinical images

Images hosted on other servers:

Obvious breast asymmetry with a rudimentary left sided nipple