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The breasts
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Congenital abnormalities of the breast are rare, with the exception of accessory breast parenchyma (polymastia) and accessory nipples (polythelia). Ectopic breast tissue is seen in 1%–6% adults, more commonly in women. Ectopic breast tissue is often bilateral and can present anywhere along the milk line, most commonly in the axilla. It has been suggested that there is a familiar autosomal dominant predisposition, as 6%–12% of patients have a close relative with the same condition. Ectopic breast tissue may present during pregnancy as swelling, but the main relevance is that benign and malignant breast conditions can arise and may be misdiagnosed.
Breast disorders in children and adolescents
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Nirupama K. De Silva, Monica Henning
Supernumerary breast tissue, most commonly accessory nipples, occurs in approximately 1%–2% of the population.3,5 A complete accessory breast is termed polymastia (Figure 13.2). Supranumerary nipples are referred to as polythelia. The abnormally placed tissue is almost universally located in the axilla or just inferior to the normally positioned breast along the embryonic milk line.5 The normal axillary extension of breast tissue (the tail of Spence) should not be confused with supernumerary breast tissue. True ectopic breast tissue, or breast tissue found outside the normal milk line, is exceedingly rare but has been reported on the face, back, and perineum, and in the midline of the anterior torso.5,24,25
Case 3.10
Published in Monica Fawzy, Plastic Surgery Vivas for the FRCS(Plast), 2023
Please describe the embryology of breast development, as well as the stages of breast development.Prenatal breast development can be classified into two main processes with:formation of a primary mammary bud, anddevelopment of a rudimentary mammary gland.Bilateral mammary ridges develop from the ectoderm in the 5th week of gestation and extend from the axilla to the groin. Most of these atrophy – except for paired solid epithelial masses in the pectoral region that grow into the mesenchyme to form the primary mammary buds at the end of the first trimester. Failure of this process leads to polythelia in up to 5% of people.In the second trimester, secondary epithelial buds appear from indentations on the primary mammary bud, which give rise to lactiferous ducts. These invaginate into the mesenchyme to form a well-defined tubular architecture at 6 months and continue to branch and canalize in the third trimester.With regards to the stages of breast development, Tanner described five stages:stage 1 refers to a prepubertal breast,stage 2 refers to breast bud formation,stage 3 refers to further enlargement of the breast and areola,stage 4 refers to the formation of a secondary mound – due to disproportionate enlargement of the nipple and areola, andstage 5 being the final adolescent development of a smooth contour with recession of the areola on to the breast.
Exome sequencing of Saudi Arabian patients with ADPKD
Published in Renal Failure, 2019
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali
This case-control study included 16 ADPKD probands ascertained in the nephrology clinic at King Fahd Hospital of the University, Al-Khobar and King Fahd Military Medical Complex, Dhahran, in the Eastern Province of Saudi Arabia. Patient demographic and clinical characteristics are provided in Table 1. We attempted to exclude all patients with syndromic causes of multiple renal cysts, such as tuberous sclerosis, von Hippel-Lindau disease, and familial polythelia with multiple renal cysts from the study. Clinical diagnosis of ADPKD was obtained using computerized tomography (CT) imaging (Figure 1). Estimated glomerular function (eGFR) was calculated from serum creatinine using the CKD-EPI equation. ADPKD diagnosis was based upon the unified Pei-Ravine diagnostic criteria when family history was present [18]. The presence of multiple cysts with dilated collecting ducts, enlarged renal outlines, increased renal echogenicity, loss of corticomedullar differentiation, and positive family history was documented. In three patients, it was not possible to confirm whether there was a positive family history of ADPKD due to unavailability of parental medical records. Total kidney volume was calculated using the ellipsoid equation, and Mayo Clinic imaging classification (MCIC) was calculated using their web-based tool [19]. Patients were evaluated for typical features of ADPKD including the following: bilateral symmetrical involvement of both kidneys (i.e., MCIC class 1), the presence of positive family history, and concordance between kidney imaging and rate of loss of kidney function. A total of 16 healthy controls with no family history of ADPKD or related conditions were randomly selected from the Eastern Province population. This study was approved by the Ethical Committee of Imam Abdulrahman Bin Faisal University in accordance with the 1964 Helsinki Declaration and its later amendments. Informed written consent in English, with a verified translation in Arabic, was obtained from all participants in accordance with the Institutional Review Board (IRB # 2014–01‐274).
Francis Forster, the last Horseman: A career in academic neurology
Published in Journal of the History of the Neurosciences, 2018
Gutmann, for example, later doubted Forster’s diagnosis of syringomyelia in a myelopathic patient after Forster had supported the diagnosis by noting the man’s two supernumerary nipples (Gutmann, 2005). Forster had explained that the two conditions were strongly associated and both had a genetic basis. Gutmann subsequently “spent decades looking for my next case of syrinx and supernumerary nipples” (2005) without success, and so came to believe that Forster had simply concocted the diagnosis. However, in the section on syringomyelia in Modern Therapy in Neurology (1957), which Forster had edited (and which antedated the event in question), his Georgetown University colleague and fellow neurologist, Thomas L. Auth (c1925–2000), wrote: “The patients often have associated congenital deformities, such as high palatal arches and supernumerary nipples or cervical ribs, which lead one to think of this as a congenital disorder of the spinal cord” (Auth 1957, p. 590). Furthermore, Forster had trained with H. Houston Merritt, and in Merritt’s A Textbook of Neurology (1955), Merritt had written in the section on syringomyelia and syringobulbia: The frequent association of syringomyelia with other congenital defects—spina bifida, cranial malformations, Klippel-Feil syndrome, platybasia, Von Hippel-Lindau syndrome, club feet, cervical ribs, polythelia [supernumerary nipples4Polythelia refers to additional nipples alone, whereas polymastia denotes the much rarer presence of additional mammary glands.], scoliosis, or web toes—makes it probable that the changes in the spinal cord and brain stem are also related to a defect in the development of these structures. (Merritt, 1955, p. 476)5Chris Boes had previously pointed out Merritt’s remarks on the association of syringomyelia and polythelia in an email to Gutmann on Febrary 27, 2018: “In the first edition of Merritt’s textbook, he mentions the association of syringomyelia and polythelia. I bet Forster learned that from Merritt.” Personal communication from Chris Boes, April 9, 2018.