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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

Treatment and Management of Mental Health Conditions During Pregnancy and Postpartum: ACOG Clinical Practice Guideline No. 5.
Obstet Gynecol 2023 Jun 1;141(6):1262-1288. doi: 10.1097/AOG.0000000000005202. PMID: 37486661
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
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

Supplemental Breast Cancer Screening in Women with Dense Breasts and Negative Mammography: A Systematic Review and Meta-Analysis.
Hussein H, Abbas E, Keshavarzi S, Fazelzad R, Bukhanov K, Kulkarni S, Au F, Ghai S, Alabousi A, Freitas V
Radiology 2023 Mar;306(3):e221785. Epub 2023 Jan 31 doi: 10.1148/radiol.221785. PMID: 36719288
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
The Goldilocks mastectomy.
Richardson H, Ma G
Int J Surg 2012;10(9):522-6. Epub 2012 Aug 11 doi: 10.1016/j.ijsu.2012.08.003. PMID: 22892093
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

Diagnosis

Premature Thelarche: An Updated Review.
Leung AKC, Lam JM, Hon KL
Curr Pediatr Rev 2024;20(4):500-509. doi: 10.2174/1573396320666230726110658. PMID: 37496240
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

Therapy

Supplemental Breast Cancer Screening in Women with Dense Breasts and Negative Mammography: A Systematic Review and Meta-Analysis.
Hussein H, Abbas E, Keshavarzi S, Fazelzad R, Bukhanov K, Kulkarni S, Au F, Ghai S, Alabousi A, Freitas V
Radiology 2023 Mar;306(3):e221785. Epub 2023 Jan 31 doi: 10.1148/radiol.221785. PMID: 36719288
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

Prognosis

Skin diseases of the breast and nipple: Benign and malignant tumors.
Waldman RA, Finch J, Grant-Kels JM, Stevenson C, Whitaker-Worth D
J Am Acad Dermatol 2019 Jun;80(6):1467-1481. Epub 2018 Nov 16 doi: 10.1016/j.jaad.2018.08.066. PMID: 30452954
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
Reductive Augmentation of the Breast.
Chasan PE
Aesthetic Plast Surg 2018 Jun;42(3):662-671. Epub 2017 Nov 9 doi: 10.1007/s00266-017-1010-0. PMID: 29124375Free PMC Article
Dermatopathology of the female breast.
Peters MS, Lehman JS, Comfere NI
Am J Dermatopathol 2013 May;35(3):289-304; quiz 305-7. doi: 10.1097/DAD.0b013e318267caa3. PMID: 23598853
Yunis-Varon syndrome.
Bhatia S, Holla RG
Indian Pediatr 2005 Apr;42(4):373-5. PMID: 15876600

Clinical prediction guides

Classification of Breast Implant Malposition.
Pacifico MD, Goddard NV, Harris PA
Aesthet Surg J 2024 Sep 16;44(10):1032-1042. doi: 10.1093/asj/sjae084. PMID: 38621023
Subcategorization of suspicious non-mass-like enhancement lesions(BI-RADS-MRI Category4).
Liu D, Ba Z, Gao Y, Wang L
BMC Med Imaging 2023 Nov 10;23(1):182. doi: 10.1186/s12880-023-01144-w. PMID: 37950164Free PMC Article
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
Dermatopathology of the female breast.
Peters MS, Lehman JS, Comfere NI
Am J Dermatopathol 2013 May;35(3):289-304; quiz 305-7. doi: 10.1097/DAD.0b013e318267caa3. PMID: 23598853

Recent systematic reviews

Global Stage Distribution of Breast Cancer at Diagnosis: A Systematic Review and Meta-Analysis.
Benitez Fuentes JD, Morgan E, de Luna Aguilar A, Mafra A, Shah R, Giusti F, Vignat J, Znaor A, Musetti C, Yip CH, Van Eycken L, Jedy-Agba E, Piñeros M, Soerjomataram I
JAMA Oncol 2024 Jan 1;10(1):71-78. doi: 10.1001/jamaoncol.2023.4837. PMID: 37943547Free PMC Article
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

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