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Abnormality of the breast

MedGen UID:
871338
Concept ID:
C4025829
Anatomical Abnormality
HPO: HP:0000769

Definition

An abnormality of the breast. [from HPO]

Conditions with this feature

Poland anomaly
MedGen UID:
10822
Concept ID:
C0032357
Disease or Syndrome
Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.
Blepharophimosis, ptosis, and epicanthus inversus syndrome
MedGen UID:
66312
Concept ID:
C0220663
Disease or Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears.
Ruvalcaba syndrome
MedGen UID:
120520
Concept ID:
C0265248
Disease or Syndrome
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
Acro-renal-mandibular syndrome
MedGen UID:
395425
Concept ID:
C1860166
Disease or Syndrome
A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.

Professional guidelines

PubMed

Markopoulos C, Kakisis J, Kouskos S, Kontzoglou K, Koufopoulos K, Gogas J
World J Surg 1999 May;23(5):434-8. doi: 10.1007/pl00012323. PMID: 10085389

Recent clinical studies

Etiology

Wiechmann L, Friedlander LC
Surg Clin North Am 2022 Dec;102(6):1031-1041. doi: 10.1016/j.suc.2022.06.005. PMID: 36335923
Lambertini M, Blondeaux E, Bruzzone M, Perachino M, Anderson RA, de Azambuja E, Poorvu PD, Kim HJ, Villarreal-Garza C, Pistilli B, Vaz-Luis I, Saura C, Ruddy KJ, Franzoi MA, Sertoli C, Ceppi M, Azim HA Jr, Amant F, Demeestere I, Del Mastro L, Partridge AH, Pagani O, Peccatori FA
J Clin Oncol 2021 Oct 10;39(29):3293-3305. Epub 2021 Jul 1 doi: 10.1200/JCO.21.00535. PMID: 34197218
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
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
Barthelmes L, Gateley CA
Breast 2004 Dec;13(6):446-51. doi: 10.1016/j.breast.2004.08.007. PMID: 15563850

Diagnosis

Wiechmann L, Friedlander LC
Surg Clin North Am 2022 Dec;102(6):1031-1041. doi: 10.1016/j.suc.2022.06.005. PMID: 36335923
Yin Y, Liu X, Meng Q, Han X, Zhang H, Lv Y
J Invest Surg 2022 Mar;35(3):709-720. Epub 2021 Mar 10 doi: 10.1080/08941939.2021.1894516. PMID: 33691563
Lambertini M, Blondeaux E, Bruzzone M, Perachino M, Anderson RA, de Azambuja E, Poorvu PD, Kim HJ, Villarreal-Garza C, Pistilli B, Vaz-Luis I, Saura C, Ruddy KJ, Franzoi MA, Sertoli C, Ceppi M, Azim HA Jr, Amant F, Demeestere I, Del Mastro L, Partridge AH, Pagani O, Peccatori FA
J Clin Oncol 2021 Oct 10;39(29):3293-3305. Epub 2021 Jul 1 doi: 10.1200/JCO.21.00535. PMID: 34197218
Kieturakis AJ, Wahab RA, Vijapura C, Mahoney MC
AJR Am J Roentgenol 2021 Jun;216(6):1462-1475. Epub 2020 Aug 5 doi: 10.2214/AJR.20.23905. PMID: 32755376
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

Therapy

Lee A, Syed YY
Drugs 2022 Jul;82(10):1117-1125. Epub 2022 Jul 4 doi: 10.1007/s40265-022-01738-8. PMID: 35781795Free PMC Article
Gianni L, Huang CS, Egle D, Bermejo B, Zamagni C, Thill M, Anton A, Zambelli S, Bianchini G, Russo S, Ciruelos EM, Greil R, Semiglazov V, Colleoni M, Kelly C, Mariani G, Del Mastro L, Maffeis I, Valagussa P, Viale G
Ann Oncol 2022 May;33(5):534-543. Epub 2022 Feb 17 doi: 10.1016/j.annonc.2022.02.004. PMID: 35182721
Lambertini M, Blondeaux E, Bruzzone M, Perachino M, Anderson RA, de Azambuja E, Poorvu PD, Kim HJ, Villarreal-Garza C, Pistilli B, Vaz-Luis I, Saura C, Ruddy KJ, Franzoi MA, Sertoli C, Ceppi M, Azim HA Jr, Amant F, Demeestere I, Del Mastro L, Partridge AH, Pagani O, Peccatori FA
J Clin Oncol 2021 Oct 10;39(29):3293-3305. Epub 2021 Jul 1 doi: 10.1200/JCO.21.00535. PMID: 34197218
Sisti A
Medicina (Kaunas) 2020 Jun 16;56(6) doi: 10.3390/medicina56060296. PMID: 32560062Free PMC Article
Narula HS, Carlson HE
Nat Rev Endocrinol 2014 Nov;10(11):684-98. Epub 2014 Aug 12 doi: 10.1038/nrendo.2014.139. PMID: 25112235

Prognosis

Lee A, Syed YY
Drugs 2022 Jul;82(10):1117-1125. Epub 2022 Jul 4 doi: 10.1007/s40265-022-01738-8. PMID: 35781795Free PMC Article
Gianni L, Huang CS, Egle D, Bermejo B, Zamagni C, Thill M, Anton A, Zambelli S, Bianchini G, Russo S, Ciruelos EM, Greil R, Semiglazov V, Colleoni M, Kelly C, Mariani G, Del Mastro L, Maffeis I, Valagussa P, Viale G
Ann Oncol 2022 May;33(5):534-543. Epub 2022 Feb 17 doi: 10.1016/j.annonc.2022.02.004. PMID: 35182721
Lerwill MF, Lee AHS, Tan PH
Virchows Arch 2022 Jan;480(1):45-63. Epub 2021 Sep 10 doi: 10.1007/s00428-021-03175-6. PMID: 34505197
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
Loke BN, Md Nasir ND, Thike AA, Lee JYH, Lee CS, Teh BT, Tan PH
J Clin Pathol 2018 May;71(5):381-387. Epub 2017 Dec 16 doi: 10.1136/jclinpath-2017-204838. PMID: 29248888

Clinical prediction guides

Yin Y, Liu X, Meng Q, Han X, Zhang H, Lv Y
J Invest Surg 2022 Mar;35(3):709-720. Epub 2021 Mar 10 doi: 10.1080/08941939.2021.1894516. PMID: 33691563
Lambertini M, Blondeaux E, Bruzzone M, Perachino M, Anderson RA, de Azambuja E, Poorvu PD, Kim HJ, Villarreal-Garza C, Pistilli B, Vaz-Luis I, Saura C, Ruddy KJ, Franzoi MA, Sertoli C, Ceppi M, Azim HA Jr, Amant F, Demeestere I, Del Mastro L, Partridge AH, Pagani O, Peccatori FA
J Clin Oncol 2021 Oct 10;39(29):3293-3305. Epub 2021 Jul 1 doi: 10.1200/JCO.21.00535. PMID: 34197218
Read A, Natrajan R
Endocr Relat Cancer 2018 Sep;25(9):R467-R478. Epub 2018 May 30 doi: 10.1530/ERC-18-0068. PMID: 29848666Free PMC Article
Martin SD, McGee SL
J Endocrinol 2018 May;237(2):R35-R46. Epub 2018 Feb 27 doi: 10.1530/JOE-18-0037. PMID: 29487204
Loke BN, Md Nasir ND, Thike AA, Lee JYH, Lee CS, Teh BT, Tan PH
J Clin Pathol 2018 May;71(5):381-387. Epub 2017 Dec 16 doi: 10.1136/jclinpath-2017-204838. PMID: 29248888

Recent systematic reviews

Lambertini M, Blondeaux E, Bruzzone M, Perachino M, Anderson RA, de Azambuja E, Poorvu PD, Kim HJ, Villarreal-Garza C, Pistilli B, Vaz-Luis I, Saura C, Ruddy KJ, Franzoi MA, Sertoli C, Ceppi M, Azim HA Jr, Amant F, Demeestere I, Del Mastro L, Partridge AH, Pagani O, Peccatori FA
J Clin Oncol 2021 Oct 10;39(29):3293-3305. Epub 2021 Jul 1 doi: 10.1200/JCO.21.00535. PMID: 34197218
Lin Y, Xu Y, Wang C, Song Y, Huang X, Zhang X, Cao X, Sun Q
Breast Cancer 2021 Nov;28(6):1261-1272. Epub 2021 Jun 9 doi: 10.1007/s12282-021-01263-8. PMID: 34106427
Colt S, Garcia-Casal MN, Peña-Rosas JP, Finkelstein JL, Rayco-Solon P, Weise Prinzo ZC, Mehta S
PLoS Negl Trop Dis 2017 Apr;11(4):e0005528. Epub 2017 Apr 10 doi: 10.1371/journal.pntd.0005528. PMID: 28394887Free PMC Article
Hernandez Yenty QM, Jurgens WJ, van Zuijlen PP, de Vet HC, Verhaegen PD
Breast 2016 Oct;29:82-9. Epub 2016 Jul 29 doi: 10.1016/j.breast.2016.07.011. PMID: 27476082
Claro F Jr, Figueiredo JC, Zampar AG, Pinto-Neto AM
Br J Surg 2012 Jun;99(6):768-80. Epub 2012 Apr 4 doi: 10.1002/bjs.8722. PMID: 22488516

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