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Breasts and/or nipples, aplasia or hypoplasia of, 1

MedGen UID:
991554
•Concept ID:
CN311571
•
Disease or Syndrome
Synonyms: amastia; amazia; athelia; BNAH1; breasts and/or nipples, aplasia or hypoplasia of, 1
 
Monarch Initiative: MONDO:0100490
OMIM®: 113700

Definition

Congenital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) and Poland syndrome (173800) (summary by Papadimitriou et al., 2009). Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples An autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; 616001) is caused by mutation in the PTPRF gene (179590) on chromosome 1p34. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria.
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223
Clinical Consensus Statement: Ankyloglossia in Children.
Messner AH, Walsh J, Rosenfeld RM, Schwartz SR, Ishman SL, Baldassari C, Brietzke SE, Darrow DH, Goldstein N, Levi J, Meyer AK, Parikh S, Simons JP, Wohl DL, Lambie E, Satterfield L
Otolaryngol Head Neck Surg 2020 May;162(5):597-611. Epub 2020 Apr 14 doi: 10.1177/0194599820915457. PMID: 32283998

Recent clinical studies

Etiology

Re-thinking lactation-related nipple pain and damage.
Douglas P
Womens Health (Lond) 2022 Jan-Dec;18:17455057221087865. doi: 10.1177/17455057221087865. PMID: 35343816Free PMC Article
An overview of mammographic density and its association with breast cancer.
Nazari SS, Mukherjee P
Breast Cancer 2018 May;25(3):259-267. Epub 2018 Apr 12 doi: 10.1007/s12282-018-0857-5. PMID: 29651637Free PMC Article
Breast reduction.
Hammond DC, Loffredo M
Plast Reconstr Surg 2012 May;129(5):829e-839e. doi: 10.1097/PRS.0b013e31824a2efc. PMID: 22544113
Redefining gigantomastia.
Dafydd H, Roehl KR, Phillips LG, Dancey A, Peart F, Shokrollahi K
J Plast Reconstr Aesthet Surg 2011 Feb;64(2):160-3. Epub 2010 Jun 8 doi: 10.1016/j.bjps.2010.04.043. PMID: 20965141
Repeat reduction mammaplasty.
Hudson DA, Skoll PJ
Plast Reconstr Surg 1999 Aug;104(2):401-8. doi: 10.1097/00006534-199908000-00013. PMID: 10654683

Diagnosis

Contrast-enhanced mammography in breast cancer screening.
Coffey K, Jochelson MS
Eur J Radiol 2022 Nov;156:110513. Epub 2022 Sep 10 doi: 10.1016/j.ejrad.2022.110513. PMID: 36108478Free PMC Article
Re-thinking lactation-related nipple pain and damage.
Douglas P
Womens Health (Lond) 2022 Jan-Dec;18:17455057221087865. doi: 10.1177/17455057221087865. PMID: 35343816Free PMC Article
Fibrocystic Breast Changes.
Faguy K
Radiol Technol 2022 Jan;93(3):303M-315M. PMID: 35017277
Breast Biomechanics: What Do We Really Know?
McGhee DE, Steele JR
Physiology (Bethesda) 2020 Mar 1;35(2):144-156. doi: 10.1152/physiol.00024.2019. PMID: 32027563
Cascaded CNN for View Independent Breast Segmentation in Thermal Images.
Kakileti ST, Manjunath G, Madhu HJ
Annu Int Conf IEEE Eng Med Biol Soc 2019 Jul;2019:6294-6297. doi: 10.1109/EMBC.2019.8856628. PMID: 31947281

Therapy

Nipple-Areola Complex Reconstruction.
Sisti A
Medicina (Kaunas) 2020 Jun 16;56(6) doi: 10.3390/medicina56060296. PMID: 32560062Free PMC Article
Breast Cancer Screening, Mammography, and Other Modalities.
Fiorica JV
Clin Obstet Gynecol 2016 Dec;59(4):688-709. doi: 10.1097/GRF.0000000000000246. PMID: 27741212
Breast reduction.
Hammond DC, Loffredo M
Plast Reconstr Surg 2012 May;129(5):829e-839e. doi: 10.1097/PRS.0b013e31824a2efc. PMID: 22544113
Long-term results of hypofractionated radiation therapy for breast cancer.
Whelan TJ, Pignol JP, Levine MN, Julian JA, MacKenzie R, Parpia S, Shelley W, Grimard L, Bowen J, Lukka H, Perera F, Fyles A, Schneider K, Gulavita S, Freeman C
N Engl J Med 2010 Feb 11;362(6):513-20. doi: 10.1056/NEJMoa0906260. PMID: 20147717
Tibolone: a review.
Albertazzi P, Di Micco R, Zanardi E
Maturitas 1998 Nov 16;30(3):295-305. doi: 10.1016/s0378-5122(98)00059-0. PMID: 9881330

Prognosis

A retrospective review of phyllodes tumors of the breast from a single institution.
Yuniandini A, Hamdani W, Prihantono P, Faruk M
Breast Dis 2021;40(S1):S63-S70. doi: 10.3233/BD-219009. PMID: 34092583
Mastopexy and Mastopexy-Augmentation.
Qureshi AA, Myckatyn TM, Tenenbaum MM
Aesthet Surg J 2018 Mar 14;38(4):374-384. doi: 10.1093/asj/sjx181. PMID: 29365038
Incidental breast carcinoma in reduction mammoplasty.
Huysmans M, Bronckaers M, Schillebeeckx C, Servaes D
Acta Chir Belg 2017 Oct;117(5):308-311. Epub 2017 Jun 13 doi: 10.1080/00015458.2017.1328767. PMID: 28610472
Should we routinely analyze reduction mammaplasty specimens?
Merkkola-von Schantz PA, Jahkola TA, Krogerus LA, Hukkinen KS, Kauhanen SM
J Plast Reconstr Aesthet Surg 2017 Feb;70(2):196-202. Epub 2016 Nov 10 doi: 10.1016/j.bjps.2016.10.010. PMID: 27908767
Repeat reduction mammaplasty.
Hudson DA, Skoll PJ
Plast Reconstr Surg 1999 Aug;104(2):401-8. doi: 10.1097/00006534-199908000-00013. PMID: 10654683

Clinical prediction guides

International Interobserver Variability of Breast Density Assessment.
Portnow LH, Choridah L, Kardinah K, Handarini T, Pijnappel R, Bluekens AMJ, Duijm LEM, Schoub PK, Smilg PS, Malek L, Leung JWT, Raza S
J Am Coll Radiol 2023 Jul;20(7):671-684. Epub 2023 Apr 29 doi: 10.1016/j.jacr.2023.03.010. PMID: 37127220
WSI validation studies in breast and gynecological pathology.
Mastrosimini MG, Eccher A, Nottegar A, Montin U, Scarpa A, Pantanowitz L, Girolami I
Pathol Res Pract 2022 Dec;240:154191. Epub 2022 Oct 28 doi: 10.1016/j.prp.2022.154191. PMID: 36356336
Meta-analysis: Architectural distortion and breast MRI.
Ferre R, Kuzmiak CM
Breast Dis 2022;41(1):205-214. doi: 10.3233/BD-210045. PMID: 35094984
Inverted Nipple Treatment and Poliglecaprone Spacer.
Dessena L, Dast S, Perez S, Mercut R, Herlin C, Sinna R
Aesthetic Plast Surg 2018 Aug;42(4):958-963. Epub 2018 May 1 doi: 10.1007/s00266-018-1139-5. PMID: 29717339
Does frenotomy improve breast-feeding difficulties in infants with ankyloglossia?
Ito Y
Pediatr Int 2014 Aug;56(4):497-505. doi: 10.1111/ped.12429. PMID: 24978831

Recent systematic reviews

Mammographic breast density and the risk of breast cancer: A systematic review and meta-analysis.
Bodewes FTH, van Asselt AA, Dorrius MD, Greuter MJW, de Bock GH
Breast 2022 Dec;66:62-68. Epub 2022 Sep 26 doi: 10.1016/j.breast.2022.09.007. PMID: 36183671Free PMC Article
Global guidelines for breast cancer screening: A systematic review.
Ren W, Chen M, Qiao Y, Zhao F
Breast 2022 Aug;64:85-99. Epub 2022 Apr 19 doi: 10.1016/j.breast.2022.04.003. PMID: 35636342Free PMC Article
Malignant phyllodes tumor of the breast: a systematic review.
Lissidini G, Mulè A, Santoro A, Papa G, Nicosia L, Cassano E, Ashoor AA, Veronesi P, Pantanowitz L, Hornick JL, Rossi ED
Pathologica 2022 Apr;114(2):111-120. Epub 2022 Apr 13 doi: 10.32074/1591-951X-754. PMID: 35414723Free PMC Article
Soy Isoflavones and Breast Cancer Risk: A Meta-analysis.
Boutas I, Kontogeorgi A, Dimitrakakis C, Kalantaridou SN
In Vivo 2022 Mar-Apr;36(2):556-562. doi: 10.21873/invivo.12737. PMID: 35241506Free PMC Article
Frenotomy for tongue-tie in newborn infants.
O'Shea JE, Foster JP, O'Donnell CP, Breathnach D, Jacobs SE, Todd DA, Davis PG
Cochrane Database Syst Rev 2017 Mar 11;3(3):CD011065. doi: 10.1002/14651858.CD011065.pub2. PMID: 28284020Free PMC Article

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