Congenital Abnormalities of the Breast

Figure 1 shows the classification of common congenital abnormalities of the breast and chest wall.

Figure 1.

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Common Congenital Abnormalities of the Breast and Chest Wall.

Congenital Abnormalities of the Nipple

Accessory Nipples (Also Known as Polythelia). Accessory nipples are seen in 1–5% of the general population (differences among ethnic groups have been noted) with the same incidence in male and females.^[1]

Accessory nipples develop along the milk line; more than 90% are seen in the inframammary region. These nipples can be unilateral or bilateral and are quite well developed with surrounding areola in some (Figure 2). They are prone to the same diseases as normal nipples.

Figure 2.

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Accessory Nipple.

There is some evidence that polythelia may be familial and related to urological (ectodermal) abnormalities.^[2,3] Urological workup has been recommended to rule out associated abnormalities,^[4] but in clinical practice this is not considered necessary as accessory nipples are common, whereas urological abnormalities are rare and usually obvious because of other symptoms.

Most require no treatment unless the nipple causes irritation or is excised for cosmetic reasons.

Congenital Nipple Inversion. Sir Ashley Cooper first described congenital inverted nipples in 1840. It is seen in 2% of the general population,^[5] with a family history of such a condition in 50% of patients. The cause for this abnormality is thought to be tethering and shortening of breast ducts, and development of fibrous bands behind the nipples during intrauterine life.

It can cause mechanical problems with breast feeding; however, many can breast feed without any difficulty, probably because of changes that occur in the breast during pregnancy.

There are a variety of procedures described for the surgical correction (e.g., tightening of the areolar edge circumferentially and use of adjacent dermal flaps to augment nipple); however, loss of sensation and inability to breast feed are major concerns with surgical procedures.

Most of the procedures involve short circumareolar incision or an incision at the base of the nipple. The tight bands are stretched, but it is often required to divide the ducts. A stitch can be placed at the base of nipple when it is everted, but this is not recommended (Figure 3).

Figure 3.

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Congenital Inverted Nipples. (A & B) Pre- and (C & D) postoperative pictures.

A device called a Niplette™ is available from pharmacies. This is a suction device that, when used regularly, is successful in a few women at everting the nipple.

Athelia. Complete absence of nipple and areola is termed as athelia. This condition can be familial (autosomal dominant), and may be unilateral or bilateral, and is seen in association with amastia or rare syndromes such as scalp-ear-nipple or SEN syndrome (scalp nodules and ear malformation), Al-Awadi/Rass-Rothschild syndrome and Poland’s syndrome.^[6]

A thorough investigation to rule out any other associated ectodermal abnormalities is required. Nipple and areola reconstruction can be carried out using small tissue flaps along with tattooing of a new areola in the absence of any other deformity. Skin grafts could also be used to create areola.

Congenital Abnormalities of the Breast

Accessory Breast Tissue or Supernumerary Breasts: Polymastia. Accessory breast tissue or supernumerary breasts are seen in approximately 1–2% of the general population, but figures as high as 6% have been reported. There is a female preponderance with some reported as hereditary cases.^[7,8]

In approximately a third of patients, accessory breasts are found in more than one site; the most common site is the axilla (Figure 4). Axillary accessory breast tissue can have its own nipple–areola complex.

Figure 4.

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Bilateral Accessory Axillary Breasts.

Polymastia is usually diagnosed at puberty or during pregnancy when the accessory breast tissue develops along with the normal breasts. These are mostly asymptomatic, but can cause discomfort, and in some are seen as cosmetically unacceptable. Accessory breast tissue is susceptible to all the normal changes and disease spectrum seen in the normal breast. Breast cancer cases have been reported in accessory breast tissue.

The best policy is to try and avoid surgery, as it may cause unsightly scars, restriction of movement, cause pain and is not without complications.^[9] Any surgery needs an experienced surgeon and careful preoperative marking. Scar placement for any surgery is vital; it should not extend beyond the edge of the pectoralis major.

Liposuction is useful for the fatty element of accessory breasts, and in some cases it is the only treatment required. Liposuction is also valuable in helping to define the planes between accessory breast tissue and the underlying axilla.

A combination of surgery for the glandular element and liposuction of the fatty element has been described. Excess overlying skin should be excised in cases of large accessory breasts.

In the postoperative period, seroma, incomplete excision, damage to intercostal-brachial nerves, painful scar and deformity due to excess removal of tissue are some of the complications of surgery.^[8]

Down et al. reported 0.5% of all patients referred to a breast clinic had accessory breasts.^[9] In their series, 28 women had surgery, 11 experienced postoperative problems (two had seroma; two had residual tissue; two had intercostal nerve injury; five had poor scarring and one had an infection), thus suggesting high incidence of postoperative complications. Hence, the need to avoid surgery if possible.

Asymmetry (Aplasia & Hypoplasia) of the Breast. One breast can be hypoplastic or absent (aplasia) and this can occur in isolation or in association with a defect in (one or both) pectoral muscles. Some degree of breast asymmetry is common, but it is more pronounced in cases of hypoplasia (Figure 5).

Figure 5.

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Breast Hypoplasia. (A) Pre- and (B & C) postsurgery with (B) expansion followed by (C) implant insertion.

This ‘true asymmetry’ can be treated with various treatment options, including augmentation of the smaller breast with implant, reduction and mastopexy of the larger breast, or a combination of both these options. Where there is asymmetry in the skin, the use of expanders prior to permanent implant replacement can improve symmetry. To get true symmetry, there is usually a need to operate on both breasts. The best age to perform surgery is when the breasts have fully developed – usually approximately at age 17 or 18 years. More than one operation may be required. Some hypoplastic breasts can also have a tubular element. Lipofilling (although controversial, its risks and benefits should be discussed with the patients) is useful to provide implant cover and improve contour to obtain a high degree of symmetry.

Amastia. The total absence of breast tissue and nipple–areola complex is called amastia (Figure 6),^[6] whereas absence of breast tissue only is called amasia.

Figure 6.

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Bilateral Absence of Breasts: Amastia.

In amastia, the mammary ridge disappears completely or fails to develop. There is often evidence of associated ectodermal defects such as cleft palate, isolated pectoral muscle and upper limb deformities, urological abnormalities, and even Poland’s syndrome. Familial cases have been reported with an autosomal dominant trait.^[6] New breasts can be reconstructed using expanders and implants or using myocutaneous flaps such as the latissimus dorsi myocutaneous flap.

Abnormalities of the Shape of the Breast

Tubular Breasts. Tubular breasts are characterized by normal function/physiology of the breast tissue, but abnormal anatomical shape. It can be unilateral or bilateral, and the classical features include some or all of: lack of breast skin; breast hypoplasia and asymmetry; conical breasts; herniated nipple–areolar complex; large areola and a constricted breast base (Figure 7).

Figure 7.

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Tubular Breasts. (A & B) Pre- and (C & D) postsurgery.

The first correction technique for tuberous breasts was described by Rees and Aston in 1976.^[10] They suggested widening of the constricted ring at the base of the breast tissue by radial scoring, essentially making cuts at the base of the breast from the centre, similar to the hands of a clock. Several similar techniques to expand the base width have been described since.

Standard treatment includes placement of expanders through an inframammary fold incision following radial scoring and later replacement with implants. These procedures do not correct the ‘herniated nipple and areola complex’, and a second procedure is often required to correct this deformity, such as reducing the size by circular periareolar round block mastopexy (this could also be performed at the time of primary surgery in select cases).

The dual plane technique for tubular breast is now very popular. This technique differs from the subglandular position, in that the implant is placed in the subpectoral plane. The upper two thirds of the implant is covered by muscle and the lower third is covered by breast tissue. A short scar correction of the tuberous breast has also been described.^[11]

Lipofilling in the periphery of the breast (not recommended within the breast) helps to achieve a final better contour and adds volume along with the expander.

The long-term outcome from surgery is not always satisfactory with loss of sensation, scar issues and asymmetry being common complications.

Congenital Chest Wall Deformity

Poland’s Syndrome. Unilateral chest wall hypoplasia with ipsilateral upper limb deformity is called Poland’s syndrome (Figures 8 & 9). A patient with some of these features was first described by Alfred Poland from Guys Hospital London in 1841. It was later named Poland’s syndrome by Clarkson in 1962, who, when also working at Guy’s Hospital London (London, UK), reported three patients with breast and hand deformities and noted Poland had described a similar case earlier.^[12]

Figure 8.

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Poland’s Syndrome in a Man.

Figure 9.

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Missing Left Pectoralis Major and Hypoplasia of the Breast. (A) Pre- and (B) postsurgery.

Poland’s syndrome consists of some or all of: absence or hypoplasia of the breast; absence of pectoralis major or minor; absence of nipple; absence of adjacent muscles and sometimes costal cartilage; rib abnormalities; and upper limb deformities (e.g., syndactyly, micromelia or brachydactyly). Familial cases have been reported.^[13] Poland’s syndrome is three-times more common in males, with an incidence of one in 7000 to one in 1,000,000 in the general population. Pectus excavatum and Poland’s syndrome, that include defects of the chest wall are the commonest forms of congenital chest wall defects. These defects can be corrected surgically.^[14]

Hypoplasia of the subclavian artery and its branches is thought to interrupt blood supply to the day 46 embryo and result in Poland’s syndrome. Some evidence indicates a correlation between Poland’s syndrome and carcinoma of underdeveloped breast and leukemia, but the frequency of this is not clear. Repair should be considered as a single-stage procedure in adults and two stages in children. Aplastic ribs can be reconstructed using bone grafts or prosthetic mesh. Muscle flaps and breast implants can be used to correct muscle and breast hypoplasia.^[15,16]

Classification of Poland’s Syndrome. The classification described by Hartrampf in the 1980s does not consider upper extremity abnormalities; however, it is useful in deciding the type of reconstruction for correction ( Table 1 ).^[17]

The aim of the treatment should be to achieve symmetry. Surgical procedures usually involve a combination of replaceable expanders (subsequently replaced by permanent implants), Becker expander/prostheses implants (shaped or round), placement of these devices in a dual plane (if the pectoral muscle is normal), and autologous muscle flaps such as latissimus dorsi flaps. The latissimus dorsi flap harvest can be performed endoscopically. The other more complicated procedures of autologous tissue reconstruction such as abdominal (i.e., transverse rectus abdominis myocutaneous and deep inferior epigastric perforators) or buttock (i.e., superior gluteal artery perforator or inferior gluteal artery perforator) flaps are usually reserved for more challenging cases.

Another option is to use rectus abdominus transverse rectus abdominis myocutaneous flap (free or pedicled). A two-flap technique including free and pedicled transverse rectus abdominis myocutaneous flaps for chest and breast reconstruction has been described.^[18]

Use of lipofilling and contralateral reduction/mastopexy improves long-term cosmetic results. The best time for operation is in the late teens, but operations can be performed from 11–12 years onwards to help with self esteem and normal psychological, social and sexual growth.

The management of these patients requires a multidisciplinary team approach, including pediatrician and plastic surgeon, to decide the optimum age for reconstruction. The future growth of the child should be considered in treatment planning.^[15]

Anterior Thoracic Hypoplasia. Anterior thoracic hypoplasia is rare. It includes posterior displacement of ribs, anteriorly sunken chest wall, hypoplasia of the ipsilateral breast (always present), and a superiorly placed nipple and areola. The sternum and pectoralis major are normal. Treatment consists of augmentation mammoplasty using anatomical implants. The latissimus dorsi muscle flap is not usually considered, since the pectoralis major is present and normal.