Amazia is a condition where there is absence of glandular breast tissue with preservation of the normal nipple- areola complex (NAC). Patients with amazia would therefore not require nipple reconstruction, although they may require breast mound reconstruction with implant-based techniques. Amastia is the total absence of both breast tissue and the NAC, while athelia is the complete absence of a nipple. Poland’s syndrome may involve absence of the breast and/or NAC. As the name suggests, scalp-ear-nipple syndrome is a condition in which there are abnormalities of the three described body areas. The nipples may be underdeveloped (hypothelia) or absent. Other features include small, cup-shaped ears, and aplasia cutis congenita. Each of these conditions may require nipple reconstruction.1–6
Poland’s syndrome is a condition with a variable constellation of findings including hypoplasia or absence of the breast, areola, and subcutaneous tissues. There are associated chest wall and upper limb abnormalities, which can include absent ribs, pectoralis major and minor, and brachysyndactyly of the hand and upper limb on the affected side. These patients are often seen by plastic surgery teams to provide input for either the limb abnormalities or the chest wall and breast abnormalities. Pectus excavatum and pectus carinatum are both defects of the chest wall. Pectus excavatum is the most common chest wall deformity and occurs in 1:400 cases. It involves posterior sternal depression. This tends to be an isolated condition without breast or limb abnormalities; however, the chest wall concavity can affect the appearance of the breasts significantly as effectively the base upon which they sit is retruded. Pectus carinatum is where there is anterior protrusion of the sternum and costal cartilages. Again, this can affect the appearance of the breasts but is not associated with breast or limb abnormalities. Apert’s syndrome is one of the craniosynostotic syndromes with associated complex syndactyly of the hands and feet. Chest wall and breast abnormalities are not part of this condition. Holt-Oram syndrome involves radial longitudinal deficiency of the upper limb associated with cardiac defects including septal defects, tetralogy of Fallot, mitral valve prolapse, and patent ductus arteriosus. Again, breast abnormalities are not part of this syndrome.1,2
required? Polythelia is the presence of supernumerary or accessory nipples and is the most common anomaly of the pediatric breast. It is usually unilateral along the milk line and most often is located just inferior to the normal breast. In most cases surgical excision is performed before puberty while the nipple is small. This can be performed with an elliptical excision and direct closure, leaving a small discreet scar. Local flaps are not normally required due to the small size of the excision and skin grafts are best avoided as the cosmetic outcome would likely be worse than the original accessory nipple. Laser therapy is not used for accessory nipple treatment and would lead to poor scarring following healing by secondary intention. Although no intervention can be considered, in this case, the patient is already concerned about the appearance and earlier treatment before puberty is appropriate as the size of the nipple will be relatively smaller at this stage of her life.1,2
Polymastia is the presence of accessory breast tissue and occurs in around 1% of the general population. Familial polymastia has been reported, but is not the most common presentation, and can be associated with chromosomal abnormalities and thoracic and renal anomalies. For this reason, renal ultrasound is indicated especially where other congenital anomalies are noted. The condition is present at the time of birth, although there will be further development of the breast tissue later in life if left in situ. Polymastia may be bilateral but is most often unilateral and the tissues will behave in the same way as other breast tissue. For example, the tissues will be affected by menstruation, pregnancy, and lactation. There is also the potential for development of benign tumors such as fibroadenomas and malignant tumors such as breast cancer. Surgical excision is therefore indicated for other medical, psychological, or cosmetic reasons, rather than cosmetic reasons alone.1–4
Hypomastia is commonly seen in young slim patients and, as with other breast developmental conditions, needs to be addressed on an individualized basis. One thing that is key is to be sure there is no underlying treatable reason for the hypomastia. For this reason, medical workup should include hormone function tests including thyroid, estrogen, progesterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH). This is usually performed by the referring medical team. If there are issues with pubertal development more generally, then a specialist endocrinologist is probably already involved. If so, it is worth working with them to determine the need and timing of surgery. Many slim girls may request augmentation even where hormonal function and puberty is normal. In this case, reassurance alone is unlikely to be sufficient for this patient, although it should be part of the consultation process. If she were 14 or 15 years old then reassurance alone and waiting for breast development to occur would be appropriate. When considering the timing of breast augmentation in young females, most surgeons would agree that deferring treatment until age 18 is advisable, but waiting until age 25 has no justifiable basis as in the absence of abnormal hormone status or other reason, the hypomastia is unlikely to change. In cases where there is minimal breast tissue development such as in this case, a more natural look is likely to be achieved with submuscular (dual plane) placement of anatomic implants rather than round. However, patient’s preference must be taken into account as some patients will prefer a more rounded look even though it may appear more artificial. There is a role for clinical psychology in patients undergoing or considering plastic and reconstructive surgery. It can be useful to help patients address their concerns and balance their perceptions of the condition in relation to the physical abnormality they have. However, in this case it would not be absolutely necessary to do so provided that a full discussion had been undertaken with the patient about the aims, objectives, and understanding of the options and outcomes available.1,2
The tuberous breast has a number of key characteristics and when it comes to classification with the Meara system, five key components are considered. These are the degree of constriction of the breast base, the position of the inframammary fold, the adequacy of breast and skin volumes, and the degree of ptosis. Protrusion of the nipple-areola complex is a common finding in the tuberous breast secondary to herniation of the breast tissue anteriorly into the areola area. This is thought to occur because there is constriction within the breast and so development occurs in the path of least resistance, which is through the areola rather than the normal radial breast development. Furthermore, the areola tends to be wider in the tuberous breast. In spite of this, neither areola herniation nor diameter is part of the classification system. Knowledge of the classification system is not only useful for examinations, but helps provide a structural basis for forming surgical management plans.1 Von Heimburg is also known for a classification system of the tuberous breast, which also can be useful for clinical practice and examinations. There are four grades (I–IV which range from mild to severe). These can help guide treatment selection: ● Type I: Hypoplasia of the lower medial quadrant ● Type II: Hypoplasia of the lower medial and lateral quadrants, sufficient skin in the subareolar region ● Type III: Hypoplasia of the lower medial and lateral quadrants, deficiency of skin in the subareolar region ● Type IV: Severe breast constriction, minimal breast base2,3
Tuberous breast deformity is a relatively rare condition (not 15–20% of the population) with much inter-patient and intra-patient variation in the degree of deformity observed in the breasts and areolae. It can be quite mild in some cases and very severe in others. There are typically a number of abnormalities which coexist in a tuberous breast. These include a relative skin and volume deficiency, an abnormally developed and elevated inframammary fold (IMF), a reduced breast footprint, and a widened and protruded areolae. Almost all patients with tuberous breast will request some form of surgical treatment and this will be highly individualized to the specific deformity in each case. Most cases will require multiple surgeries and a range of techniques and approaches to be used. A common theme for such patients is the deficiency of skin, particularly in the lower pole, with a short nipple to IMF distance and they will normally need tissue expansion to address this. Patients with coexisting volume deficiencies may secondarily require permanent implants following tissue expansion. Others may have sufficient native breast volume such that implants are not required and instead just need mastopexy or even differential breast reduction with areola repositioning and diameter reduction with release of the constricted inferior pole. Very often patients will need different approaches to each breast so the full repertoire of breast surgery approaches must be in the surgeon’s toolbox. Other useful adjuncts include fat transfer and soft tissue flaps. In spite of the visual abnormality in the tuberous breast, most patients retain normal breast function and physiology. Most patients are affected bilaterally although some cases may be unilateral or display minimal deformity on the second side. Some patients may ask for treatment in a single stage for logistical and financial reasons, but single-stage implant techniques with release of the lower pole and repositioning of the IMF are only likely to be successful in select cases where the deformity is mild.1–5
Congenital nipple inversion is commonly seen in up to 10% of the population. Patients dislike the appearance of the nipples and also find that function can be impaired for breast feeding. Nipple inversion can have other causes including infection and malignancy and these need to be considered and excluded well before, not during, surgery. For this reason, neither swabs nor biopsies would be indicated intraoperatively. As with all procedure, the consent process is vital and must highlight the key risks of such a procedure and set out a basis for realistic expectations. Even with good surgical technique, there is a risk of the inversion returning once the tissues have healed and scarred down. Sometimes there is a partial improvement so the final nipple prominence ends up being somewhere between the preoperative state and the immediate postoperative state. Other risks include altered sensation, nipple necrosis, and injury to the lactiferous ducts. There is a risk that breast feeding may not be possible in future and this may reflect the original anatomy of the nipple or the surgery performed, although it is not exclusive so patients may well still retain breast feeding function. There are a number of different surgical approaches to the inverted nipple including making a small incision at the base of the nipple and releasing the fibrous bands beneath the nipple base before supporting this with sutures. However, there is not one single recognized best technique and other options include circumferential tightening of the areolar edge and dermal flaps.1–3
Synmastia is a condition where the two breasts join in the midline with disruption or absence of the intermammary sulcus. It is an extremely rare finding as a congenital anomaly and, in fact, is far more commonly seen as an iatrogenic cause following breast surgery. This can be following augmentation where the breast pocket is over dissected medially or it can become apparent following mastectomy and reconstruction with scar tethering and medialization of the native breast. Either way, it is a challenging deformity to correct and techniques include recruiting skin into the space between the breasts with local flaps, and/or trying to recreate the junction between the breast and the chest wall with plication techniques and/or dermal matrices. Synmastia is therefore not a condition where one breast fails to develop. Liposuction may be helpful to thin the intermammary subcutaneous tissues (breast web) and provide better definition, but is not the only approach.1,2