Anim Genet 2017 Jul 12. 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

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

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):e79-81. 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 Aug 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

Am J Med Genet A 2015 Sep 29;167A(9):2176-81. Epub 2015 Apr 29.

Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. Read More

Eur Arch Paediatr Dent 2015 Feb 23;16(1):63-6. Epub 2014 Sep 23.

Department of Pedodontics, School of Dentistry, Istanbul Medipol University, 34083, Istanbul, Turkey,

Background: The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS.

Case Report: This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. Read More

Anim Genet 2014 Dec 10;45(6):871-3. Epub 2014 Sep 10.

School of Agricultural, Forest and Food Sciences, Bern University of Applied Sciences, Länggasse 85, 3052, Zollikofen, Switzerland.

Supernumerary teats represent a common abnormality of the bovine udder. A genome-wide association study was performed based on the proportion of the occurrence of supernumerary teats in the daughters of 1097 Holstein bulls. The heritability of caudal supernumerary teats without mammary gland in this study was 0. Read More

Korean J Pediatr 2014 Jun 30;57(6):292-6. Epub 2014 Jun 30.

Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea.

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. Read More

Colomb Med (Cali) 2014 Jan-Mar;45(1):45-7. Epub 2014 Mar 30.

Doctoral Program in Morphological Sciences, Faculty of Dentistry, Universidad de La Frontera, Temuco, Chile ; Research Center for Biomedical Sciences, Universidad Autónoma de Chile, Temuco, Chile.

Polythelia has been defined as the presence of supernumerary nipples without accessory glandular tissue. Usually, these growths follow imaginary mammary lines running from the armpits to the groin. Although the presence of dental anomalies may occasion only a simple cosmetic problem with specific clinical considerations, the association with familial polythelia has been scarcely reported. Read More

Pediatr Endocrinol Rev 2014 Mar;11(3):290-7

Supernumerary nipples (or polythelia) usually appear along the embryonic milk lines or in other sites including the back, thigh, vulva, neck etc. The frequency of polythelia ranges from 0.2% to 5. Read More

J Appl Anim Welf Sci 2014 ;17(2):178-82

a Department of Farm Building , Agronomy and Environmental Sciences, University of Salamanca , Spain.

The aim of this work was to determine whether the removal of supernumerary teats from dairy sheep when they are born is a useful procedure in the farming routine. Ewes were divided into 3 groups according to the number of teats at milking: ewes who were born with 2 teats; ewes who were born with 4 teats and had the 2 supernumerary nipples cut just after birth; and ewes who were born with 4 teats and did not have nipple amputation performed. Removal of supernumerary teats at lambing produced a significant reduction in milk production during the 2 first milking periods (p < . Read More

Am J Med Genet A 2014 May 29;164A(5):1254-61. Epub 2014 Jan 29.

Department of Pediatrics, University of Jordan, Amman, Jordan.

We describe a 6-month-old female with developmental delay, hypotonia, supernumerary nipples, and distinct craniofacial features. Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array-CGH defined two unbalanced regions with partial 2.3 Mb deletion of 5q35. Read More

J Breast Health (2013) 2014 Jul 1;10(3):181-183. Epub 2014 Jul 1.

Department of Plastic Surgery Ospedale di Circolo e Fondazione Macchi, Plastic Surgery, Varese, Italy.

Polythelia is a rare congenital malformation that occurs in 1-2% of the population. Intra-areolar polythelia is the presence of one or more supernumerary nipples located within the areola. This is extremely rare. Read More

Indian J Hum Genet 2012 Sep;18(3):373-5

Department of Dermatology Leprology Venereology, Muzaffarnagar Medical College and Hospital, Muzaffarnagar, Uttar Pradesh, India.

We present a case of seven nipples in a 32-year-old male patient. The patient had two regular nipples along with five supernumerary nipples. Usually, supernumerary nipples develop along the two vertical "milk lines" which start in the arm pit on each side, run down through the typical nipples, and end at the groin. Read More

Aesthetic Plast Surg 2013 Aug 9;37(4):762-6. Epub 2013 May 9.

Department of Plastic, Reconstructive, and Aesthetic Surgery, Adana Numune Training and Research Hospital, Adana, Turkey.

Unlabelled: Accessory breast tissues including nipples, areolas, and glandular tissue may develop on the chest in addition to two normal breasts. An accessory breast with a complete ductal system, areola, and nipple is termed a "supernumerary breast." Supernumerary nipples are fairly common, but complete supernumerary breasts are rare. Read More

Aesthetic Plast Surg 2013 Aug 26;37(4):746-9. Epub 2013 Apr 26.

Department of Surgery, Breast Unit, IRCCS AOU San Martino-IST, Largo Rosanna Benzi 8, 16132, Genoa, Italy.

Unlabelled: Ectopic breast tissue comes in two forms: supernumerary and aberrant. Despite morphologic differences, ectopic breast tissue presents characteristics analogous to orthotopic breast tissue in terms of function and, most importantly, pathologic degeneration. Data in the literature concerning its precise incidence, the probability of malignant degeneration, and its standardized management are scarce and controversial. Read More

Case Rep Surg 2013 27;2013:947295. Epub 2013 Mar 27.

Surgery Department, Indira Gandhi Medical College and Research Institute, 225, Vazhudavur Road, Kathirkamam, Pondicherry 605009, India.

Introduction. The congenital anomalies of breast, especially the polymastia (supernumerary breast) and polythelia (supernumerary nipple), always do not fail to amuse the clinicians because of their varied presentations, associated renal anomalies, and pathologies arising from them. The axillary polymastia is a variant of ectopic breast tissue (EBT). Read More

Dermatol Online J 2013 Jan 15;19(1). Epub 2013 Jan 15.

University of Texas Medical School at Houston, Houston, TX, USA.

The presence of supernumerary nipples, known as polythelia, is the most common presentation of accessory breast tissue. It is usually considered to be a benign congenital anomaly. However, polythelia may warrant attention for more than mere cosmetic concern because supernumerary nipples have been shown to be associated with an increased risk of genitourinary malignancies. Read More

Semin Plast Surg 2013 Feb;27(1):36-41

Division of Plastic Surgery, University of Montreal, Montreal, Canada.

Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic muscle transfer, nipple and areola repositioning, and breast augmentation using prosthesis or autologous tissue transfer. Other congenital breast anomalies include supernumerary nipple and areola (polythelia) and breast (polymastia), which can generally be found on the embryonic mammary ridge. Read More

Med Arch 2012 ;66(5):348-9

Department of surgery, General Hospital "Dr. Josip Bencevic", Andrije Stampara 42,35000 Slavonski Brod, Croatia.

We present an adolescent boy with unilateral supernumerary breast. It was a V type by Leung Clasification. Despite the average occurence between 0. Read More

Am J Med Genet A 2012 Sep 17;158A(9):2245-9. Epub 2012 Jul 17.

Clinical Genetics Unit-Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy.

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly. Read More

J Pak Med Assoc 2012 May;62(5):499-500

Department of Plastic and Reconstructive Surgery, Harran University, School of Medicine, Sanliurfa, Turkey.

Polythelia, the presence of supernumerary nipples or nipple-areola complexes, is the most common anomaly of the pediatric breast. Although polythelia is common, intraareolar polythelia (nipple dichotomy) is an extremely rare congenital malformation. Surgical treatment is performed as a prophylaxis against breast cancer which has a higher prevalence in polythelia or polymastia. Read More

Dev Biol 2012 Apr;364(2):149-61

Developmental Biology Program, Institute of Biotechnology, University of Helsinki, Helsinki, Finland.

Mammary glands and hair follicles develop as ectodermal organs sharing common features during embryonic morphogenesis. The molecular signals controlling the initiation and patterning of skin appendages involve the bone morphogenetic proteins and Wnt family members, which are commonly thought to serve as inhibitory and activating cues, respectively. Here, we have examined the role of the Bmp and Wnt pathway modulator Sostdc1 in mammary gland, and hair and vibrissa follicle development using Sostdc1-null mice. Read More

Ann Ital Chir 2012 Mar-Apr;83(2):109-12

Cattedra di Chirurgia Plastica e ricostruttiva, Università degli Studi di Perugia.

Aim: Our study focuses on the approach, management and treatment of patients with polythelia and supernumerary breast and the target is the search for a treatment algorithm for these diseases.

Material Of Study: We considered at 18 patients treated from 2006 to 2011 for breast congenital anomalies in excess. 14 surgical procedures were performed, 8 for supernumerary nipple excision (1 case associated with Poland Syndrome) and 6 for accessory breast ablation. Read More

Tumori 2011 Nov-Dec;97(6):812-4

Department of General Surgery, Norfolk and Norwich University Hospital, Colnet Lane, Norwich, Norfolk, United Kingdom.

Nipple adenoma, a benign tumour of the breast, is a relatively rare occurrence. This report describes an even rarer case of nipple adenoma arising within a supernumerary mammary gland. The presenting symptoms were a lump and throbbing pain in the axilla. Read More

J Dermatol 2012 Oct 14;39(10):873-5. Epub 2011 Dec 14.

Indian J Dermatol Venereol Leprol 2011 Nov-Dec;77(6):730

Cutis 2011 Jun;87(6):300-4

UT Health Science Center, San Antonio, Texas, USA.

Supernumerary breasts and nipples are not uncommon and have familial and syndrome associations. Although usually of only cosmetic concern, hormonal changes and inflammatory or neoplastic conditions that affect primary breast tissue also may occur in areas of ectopic breast tissue. We describe cases of familial functional axillary breasts and primary carcinoma of the breast arising in ectopic axillary breast tissue. Read More

Am J Med Genet A 2011 Apr 17;155A(4):880-4. Epub 2011 Mar 17.

Institut Jérôme Lejeune, Paris, France.

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Read More

J Cutan Pathol 2011 Jun 2;38(6):532-3. Epub 2011 Mar 2.

Am J Med Genet A 2011 Mar 22;155A(3):642-7. Epub 2011 Feb 22.

Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Here, we describe the clinical features of a boy with a 5.6-Mb deletion at chromosome 7p15.1-p15. Read More

Am J Med Genet A 2011 Jan 9;155A(1):145-8. Epub 2010 Dec 9.

Istituto di Genetica Medica, Università Cattolica del S. Cuore, Roma, Italy.

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia. Psychomotor development is usually normal. The syndrome is caused by mutation/deletion of the X-linked gene GPC3. Read More

Jpn J Radiol 2010 Oct 24;28(8):613-7. Epub 2010 Oct 24.

Department of Radiology, Wakayama Medical University, Kimiidera, Wakayama, Japan.

Accessory breast is synonymous with polymastia or supernumerary breast tissue. An accessory breast without a nipple or areola is rare. We report a case of fibroadenoma of an accessory breast with no nipple or areola in a 41-year-old woman who presented with a right axillary mass associated with five small nodules in the normally situated breast. Read More

Pediatr Int 2010 Aug;52(4):e190-1

Department of Pediatrics, Fatih University Faculty of Medicine, Ankara, Turkey.

Genet Couns 2010 ;21(2):187-97

Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey.

A newborn male presented with intestinal malrotation, facial anomalies, hypertrichosis, hypertrophic, hyperpigmented nipples and enlarged genitals with a hyperpigmented scrotum. In addition, the patient displayed a marked lipodystrophy of trunk and limbs. His karyotype demonstrated a small supernumerary NOR-positive marker chromosome that was subsequently identified as del(22)(q12->qter). Read More

J Craniomaxillofac Surg 2011 Mar 29;39(2):99-101. Epub 2010 Jul 29.

Department of Pediatrics, Pt. B.D. Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India.

Hypoglossia-hypodactyly syndrome is characterised by small tongue associated with limb deficiency. It is an extremely rare condition with around 30 cases reported in world literature. We report a case of hypoglossia-hypodactyly syndrome that in addition to features already described also had supernumerary nipples, microcephaly and micropenis with cryptorchidism. Read More

Int J Dermatol 2010 Apr;49(4):396-401

Dermatology Department, Habib Thameur Hospital-Tunis.

Summary Background: Most of the published reports on Hailey-Hailey disease (HHD) come from European and Asian countries. We report here the clinical and genetic investigation of 20 patients affected with HHD in Tunisia.

Methods: Affected individuals from three large teaching hospitals in Tunis were recruited for the study over a 25-year period. Read More

Ophthalmic Genet 2010 Jun;31(2):81-3

Danish Institute for Myopia Research, Vedbaek, Denmark.

A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preauricular manifestations while visible epibulbar lipodermoids do not seem obligatory. Read More

J Plast Reconstr Aesthet Surg 2010 Dec;63(12):2188-90

Department of Plastic and Reconstructive Surgery, Nelson R Mandela School of Medicine, University of Kwazulu Natal, Durban, South Africa.

Supernumerary nipples are common congenital anomalies, most often occurring along the embryonic milk lines. We present a patient with an ectopic nipple on the foot. We are unable to explain the aetiology of this anomaly; however, several theories have been proposed. Read More

G Chir 2010 Mar;31(3):96-9

Università degli Studi di Bologna, Alma Mater Studiorum, Policlinico "S. Orsola-Malpighi", Bologna, Dipartimento di Emergenza/Urgenza.

Among the rare anomalies of the breast development, polythelia is the most common, between 1% and 5% of women and men present supernumerary nipples. Polymastia, usually presenting as ectopic breast tissue without areola-nipple complex, is seen mostly along the milk line, extending from the axilla to the pubic region. Ectopic breast tissue is functionally analogous to mammary gland and it is subjected to the same alterations and diseases, whether benign or malignant, that affect normal breast tissue. Read More

Am J Med Genet A 2009 Nov;149A(11):2484-8

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson-Golabi-Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition. Read More