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Orphanet J Rare Dis 2022 01 31;17(1):29. Epub 2022 Jan 31.

Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey.

Background: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples. Generally, GS is associated with in utero lethality in males and most of the reported male patients show mosaicism (only three non-mosaic surviving males have been described so far). Read More

J Med Case Rep 2022 Jan 5;16(1). Epub 2022 Jan 5.

Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - 3º andar, Porto Alegre, RS, 90035-007, Brazil.

Background: Poirier-Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. Read More

Theriogenology 2022 Feb 26;179:141-148. Epub 2021 Nov 26.

Department of Animal Science, Isfahan (Khorasgan) Branch, Islamic Azad University, Isfahan, 81595-158, Iran.

Historically, female domestic goats carrying multiple kids are mostly unable to express sufficient nursing ability due to a limited number of functional teats. Therefore, the functional teat is an important component in prolific goat breeding, and plays a key role in the future health of their kids. With this motivation, we wanted to investigate the phenotypic features, litter size, histology of adult female mammary glands, and the gene expression profile of the fibroblast growth factor 2 (FGF-2) gene in goats. Read More

Cureus 2021 Aug 28;13(8):e17523. Epub 2021 Aug 28.

Internal Medicine, Southern Hills Hospital and Medical Center, Las Vegas, USA.

Ectopic breast tissue is the presence of retained breast tissue along the embryologic mammary ridge, also known as the milk line. Accessory tissue can be located anywhere along or outside the anatomic milk line extending from the axilla to the groin. Ectopic breast tissue can undergo the same physiologic and pathologic changes seen in normal breast tissue, such as fibroadenomas, fibrocystic changes, and malignancy. Read More

J Pediatr Adolesc Gynecol 2021 Sep 2. Epub 2021 Sep 2.

Paediatrician, Centro Amante Laffon, Seville, Spain. Electronic address:

Background: Ectopic breast tissue is a rare condition in the Caucasian population. The most frequent form is polythelia (supernumerary nipples), whereas polymastia (complete supernumerary breasts) is more uncommon. They are usually benign asymptomatic lesions that go undetected until pregnancy or lactation. Read More

Radiol Case Rep 2021 Sep 23;16(9):2804-2807. Epub 2021 Jul 23.

Gynecology Department, University Hospital Center Ibn Rochd Casablanca, Casablanca, Morocco.

Polymastia or supernumerary breast is an anomaly of the embryonic development of the mammary gland resulting in ectopic breast tissue. We report an exceptional case of a unilateral axillary supernumerary breast in a 71-year-old patient which became enlarged after menopause. The diagnosis was confirmed on anatomopathological study which revealed no sign of malignancy otherwise. Read More

Front Genet 2021 20;12:670582. Epub 2021 May 20.

College of Animal Science and Technology, China Agricultural University, Beijing, China.

Copy number variations (CNVs) are a major source of structural variation in mammalian genomes. Here, we characterized the genome-wide CNV in 2059 sheep from 67 populations all over the world using the Ovine Infinium HD (600K) SNP BeadChip. We tested their associations with distinct phenotypic traits by conducting multiple independent genome-wide tests. Read More

Eur J Med Genet 2021 Jul 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 Sep;43(9):e111-e112

University of Salerno, Department of Medicine and Surgery, 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 (Engl Ed) 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 (Engl Ed) 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.