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Breast-nonmalignant
Congenital anomalies
Athelia
Author: Nat Pernick, M.D. (see Authors page)
Revised: 12 March 2010, last major update March 2010
Copyright: (c) 2002-2010, PathologyOutlines.com, Inc.
Definition
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● Breast glandular tissue but no nipple or areola
● Also a genus of fungi
Terminology
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● See also amastia / aplasia / hypoplasia
Epidemiology
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● Very rare
● Associated with Poland syndrome (musculoskeletal deformities of chest wall and ipsilateral upper extremity, OMIM 173800, eMedicine)
● Part of scalp-ears-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)
Etiology
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Clinical features
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Prognostic factors
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Case reports
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● Newborn female who died shortly after birth (Am J Med Genet A 2007;143:1231)
● Newborn female with bilateral athelia and congenital jejunal atresia (Clin Dysmorphol 2006;15:37)
● Associated with focal dermal hypoplasia (Clin Genet 2008;73:373)
Treatment
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Clinical images
Obvious breast asymmetry with a rudimentary left sided nipple
Differential Diagnosis
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● (link to topic)
Additional references
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End of Breast-nonmalignant > Congenital anomalies > Athelia
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