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Eur J Med Genet 2021 Apr 27;64(7):104213. Epub 2021 Apr 27.

Department of Clinical Genetics, Guy's Hospital, London, UK. Electronic address:

Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene duplications have been previously reported in association with typical and atypical HOS phenotypes. Read More

Am J Dermatopathol 2021 Feb 8. Epub 2021 Feb 8.

University of Salerno, Department of Medicine and Surgery, Salerno, Italy; Hospital Tortora, Department of Pathology, Pagani (SA), Italy; and Department of Pathology, University Hospital "San Giovanni di Dio e Ruggi D'Aragona", Salerno, Italy.

Abstract: The presence of a supernumerary nipple inside the original areola is a rare condition termed intra-areolar polythelia. Rarely, a lesion can macroscopically resemble a nipple. We report a case of a solitary neurofibroma (by itself rare in the areola) mimicking a second, twin nipple. Read More

Arch Soc Esp Oftalmol 2021 Jan 3;96(1):41-44. Epub 2020 Oct 3.

Hospital Clínico Universitario de Valladolid, Valladolid, España.

"Ankyloblepharon filiforme adnatum" is a congenital anomaly characterized by partial or complete adhesion of upper and lower eyelids. The lid margins remain fused until the end of the fifth month of gestational age. Complete separation usually is completed about the seventh fetal month. Read More

Breast J 2020 10 30;26(10):2042-2044. Epub 2020 Jul 30.

Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Supernumerary breast components occur predominantly between the breast and umbilicus. Carcinoma of this ectopic, or accessory breast tissue (ABT), is exceedingly rare, accounting for <1% of breast cancer cases. Historically, ectopic breast carcinoma was considered aggressive with poor outcome. Read More

Pathologe 2020 Sep;41(5):515-522

Pathologisches Institut, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 224, 69120, Heidelberg, Deutschland.

The nipple-areola complex is the origin of various morphologically distinct tumors and tumor-like lesions, which can be delineated from the special structures of the nipple, in particular the intramammary ducts, skin-appendages, and the intramammary stroma. Benign tumors are most frequent and this includes epithelial tumors such as mammary adenoma and syringomatous tumor of the nipple. Less commonly observed are benign mesenchymal tumors such as leiomyoma of the nipple, or tumor-like lesions like pseudo-lymphoma. Read More

Pediatr Ann 2020 Feb;49(2):e66-e70

Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits, accessory nipple, and natal teeth. It is important for health care providers who take care of newborns to recognize these benign anomalies so that unnecessary evaluations and investigations are not performed. Read More

J Anat 2020 05 2;236(5):954-962. Epub 2020 Jan 2.

Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.

Supernumerary nipples or teats (polythelia) are congenital accessory structures that may develop at any location along the milk line and have been implicated in the pathogenesis of mastitis. We describe the anatomy and histology of 27 spontaneously occurring supernumerary teats from 16 sheep, delineating two groups of teats - simple and anatomically complex - according to the complexity of the anatomy and microenvironment. Anatomically complex supernumerary teats exhibited significantly increased length and barrel diameter compared with simple supernumerary teats. Read More

Pan Afr Med J 2019 17;34:36. Epub 2019 Sep 17.

Dermatology and Venereology Department, Ibn Sina University Hospital, Rabat, Morocco.

Case Rep Pathol 2019 17;2019:9461815. Epub 2019 Jan 17.

Department of Pathology, Zealand University Hospital, Slagelse, Denmark.

Syringomatous tumour (SyT) is a rare type of benign locally infiltrative tumour with debated origin. Because of the growth pattern, SyT can be mistaken for a malignant tumour, and it is therefore important to keep this diagnosis in mind. This case presents a woman with two supernumerary nipples on each side of the abdomen. Read More

Int J Surg Case Rep 2019 19;55:35-36. Epub 2019 Jan 19.

University of Duhok, College of Medicine, Department of Surgery, Azadi Teaching Hospital, 8 Nakhoshkhana Road, 1014 AM, Duhok City, Iraq. Electronic address:

Introduction: Accessory or supernumerary nipples can be applied when more than 2 breasts present in human beings. Usually they are seen in the embryonic milk line; however, their presence outside this line is extremely rare. A 14-year-old boy presented to the surgical consultation room complaining from a round brown skin lesion over the right shoulder area, there were no symptoms associated with this lesion but the family was worried about it. Read More

Surg Neurol Int 2018 24;9:143. Epub 2018 Jul 24.

Department of Pathology, Maulana Azad Medical College, Lok Nayak Jai Prakash Narayan Hospital, Guru Nanak Eye Centre and G. B. Pant Institute of Postgraduate Medical Education and Research (G.I.P.M.E.R.), New Delhi, India.

Background: Accessory breast, also known as supernumerary breasts, polymastia, or mammae erraticae, is a clinical condition of having an additional breast. Accessory breasts are usually seen along the embryonic milk line, with the majority located in the axilla. Polythelia is the presence of an additional nipple. Read More

Cir Esp 2019 Jan 11;97(1):52. Epub 2018 Jul 11.

Servicio de Cirugía General y del Aparato Digestivo, Unidad de Patología Mamaria, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.

Case Rep Dermatol Med 2018 11;2018:6925105. Epub 2018 Feb 11.

Department of Dermatology, University of Texas McGovern Medical School, Houston, TX, USA.

Lymphangioma circumscriptum is a superficially localized variant of lymphangioma. The characteristic clinical presentation is a "frogspawn" grouping of vesicles or papulovesicles on the proximal limb or limb girdle areas. Though most lymphangiomas develop congenitally, the lymphangioma circumscriptum subtype is known to present in adults. Read More

Ann Dermatol Venereol 2018 Jun - Jul;145(6-7):423-428. Epub 2018 Apr 16.

Cabinet de dermatologie, 16, rue Balard, 75015 Paris, France.

Background: Paget's disease of the breast is rare, even more so when it occurs in a supernumerary breast since diagnosis is delayed due to lack of exploration and ignorance of the pathology of ectopic breast. Based on an original clinical case, we provide a clinical update concerning ectopic breast and ectopic carcinoma, including Paget's disease.

Patients And Methods: A 44-year-old woman had complained of pain in the area of her supernumerary breast for several months. Read More

G Ital Dermatol Venereol 2019 Oct 24;154(5):596-597. Epub 2018 Jan 24.

Unit of Dermatology and Cosmetology, IRCCS University Vita-Salute San Raffaele, Milan, Italy.

Anim Genet 2017 Oct 12;48(5):570-579. Epub 2017 Jul 12.

CAS Key Laboratory of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences (CAS), Beijing, 100101, China.

Genome-wide association studies (GWASs) have been widely applied in livestock to identify genes associated with traits of economic interest. Here, we conducted the first GWAS of the supernumerary nipple phenotype in Wadi sheep, a native Chinese sheep breed, based on Ovine Infinium HD SNP BeadChip genotypes in a total of 144 ewes (75 cases with four teats, including two normal and two supernumerary teats, and 69 control cases with two teats). We detected 63 significant SNPs at the chromosome-wise threshold. Read More

Am J Case Rep 2017 Jun 10;18:649-655. Epub 2017 Jun 10.

Department of Pathology, University of Cincinnati, College of Medicine, Cincinnati, OH, USA.

BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26. Read More

Rozhl Chir Spring 2017;96(4):179-182

Polymastia is a fairly well-described and not entirely uncommon developmental anomaly in embryogenesis of the breast. It occurs in the milk line, most often in the axila but may also be present outside of this area. Clinical manifestation of polymastia is due to sex hormones, especially during puberty, pregnancy and lactation. Read More

Ann Transl Med 2017 Mar;5(5):106

North Coast Cancer Institute, Lismore, 2480 NSW, Australia.

We describe a 54-year-old man with breast cancer and a BRCA2 mutation who was also found to have bilateral supernumerary nipples. His sister, also with a BRCA2 mutation, was diagnosed with breast cancer in her late forties; she also had bilateral supernumerary nipples. We address the significance of breast cancer arising in breast tissue underlying supernumerary nipples; the known association between supernumerary nipples and genitourinary malignancies/malformations and the possible link between BRCA2 and supernumerary nipple development. Read More

J Clin Diagn Res 2016 Oct 1;10(10):PC18-PC24. Epub 2016 Oct 1.

Assistant Professor, Department of Radiodiagnosis and Imaging, M.M. Institute of Medical Sciences and Research , Mullana, Ambala, Haryana, India .

Introduction: Polymastia and polythelia may be asymptomatic or cause pain, restriction of arm movement, milk discharge, cosmetic problems or anxiety. Cosmesis is the main indication for surgical excision of accessory breasts in axilla. In addition it also confirms the diagnosis and allays the patient's fear of harbouring a malignancy. Read More

J Dairy Sci 2017 Jan 17;100(1):402-411. Epub 2016 Nov 17.

Qualitas AG, Zug 6300, Switzerland.

Supernumerary teats (SNT) are any abnormal teats found on a calf in addition to the usual and functional 4 teats. The presence of SNT has also been termed "hyperthelia" since the end of the 19th century. Supernumerary teats can act as an incubator for bacteria, infecting the whole udder, and can interfere with the positioning of the milking machine, and consequently, have economic relevance. Read More

Breast J 2017 03 31;23(2):246-248. Epub 2016 Oct 31.

Division of Plastic and Reconstructive Surgery, European Institute of Oncology, Milan, Italy.

J Dairy Sci 2016 Nov 17;99(11):8891-8900. Epub 2016 Aug 17.

Génétique, Physiologie et Systèmes d'Elevage (GenPhySE), Université de Toulouse, INRA, INstitut Polytechnique de Toulouse (INPT), Ecole Nationale Vétérnaire de Toulouse (INP-ENVT), Castanet Tolosan, France.

This paper reports a quantitative genetics and genomic analysis of undesired presence of supernumerary teats (SNT) in goats. Supernumerary teats are a problem in goat breeding as they can considerably impede machine milking efficiency, leading to increased milking time and injury. This phenotype has routinely been recorded for the past 15 yr in French Alpine and Saanen goats. Read More

J Med Case Rep 2016 Aug 12;10(1):223. Epub 2016 Aug 12.

Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA.

Background: Pierpont syndrome was first described in 1998 with key characteristics including developmental delay, dysmorphic facial features, fat pads on hands and feet, and feeding difficulties. To date the mechanism of inheritance is unknown. Nine out of ten previously described patients with Pierpont syndrome were boys. Read More

J Pediatr Adolesc Gynecol 2016 Oct 13;29(5):e79-e81. Epub 2016 May 13.

Chief of Pediatric Surgery, Department of Pediatric Surgery, Emergency Children's Hospital, Cluj-Napoca, Romania.

Background: Supernumerary breast or polymastia is a well documented anomaly of the breast, and commonly presents along the embryonic milk line extending between the axilla and groin. However, cases of polymastia have been recorded in the face, vulva, and perineum. The clinical significance of these anomalies include their susceptibility to inflammatory and malignant changes, and their association with other congenital anomalies of the urinary and cardiovascular systems. Read More

Clin Breast Cancer 2016 08 31;16(4):e107-12. Epub 2016 Mar 31.

Department of Human Pathology, University Hospital of Messina, Messina, Italy.

Background: Ectopic breast tissue, which includes both supernumerary breast and aberrant breast tissue, is the most common congenital breast abnormality. Ectopic breast cancers are rare neoplasms that occur in 0.3% to 0. Read More

Clin Dysmorphol 2016 Apr;25(2):84-5

aDepartment of Genetic Medicine, Belfast HSC Trust bCentre for Cancer Research and Cell Biology, Queens University of Belfast, Belfast, UK.

Ann Surg Oncol 2015 Oct 5;22(10):3236-40. Epub 2015 Aug 5.

Department of Surgery, Stanford University School of Medicine, Stanford, CA, USA.

The nipple and areola are pigmented areas of modified skin that connect with the underlying gland of the breast via ducts. The fairly common congenital anomalies of the nipple include inversion, clefts, and supernumerary nipples. The anatomy of the nipple areolar complex is discussed as a foundation to review anatomical variants, and the physiologic development of the nipple, including changes in puberty and pregnancy, as well as the basis of normal physiologic discharge, are addressed. Read More

Ugeskr Laeger 2015 Jun;177(25)

Mammakirurgisk Afdeling, Regionshospitalet Viborg, Heibergs Alle 6, 8800 Viborg.

Two different forms of ectopic breast tissue exist in human beings: supernumerary and aberrant. Both forms are usually seen alongside the milk lines, which extend from the upper limbs to the inguinal region where they give rise to mammary glands, areolas and nipples. Although ectopic- and orthotopic breast tissue are placed in different areas of the body, they still share the same ability to undergo pathological degeneration. Read More