Congenital anomalies of the breast

23.1 Congenital anomalies of the breast


The term “tuberous breast” was described for the first time by Rees and Aston in 1976,1 and is used to indicate a great variety of breast deformities, which may present very different anatomical-morphologic characteristics with differing degrees of severity. Various names are used to describe the deformity such as: tuberous breast; tubular breast; Snoopy breast; nipple breast; domed breast; herniated areolar complex; narrowed-based breast; constricted breast; lower pole hypoplasia. This creates great confusion, especially when describing the different types of surgical technique utilized for its correction. An author often describes a precise surgical technique for the treatment of such malformations, without making a precise distinction between the different types of anatomical deformity or degree of severity of such malformations.

There is no single surgical technique suitable to correct all types of different malformations, however we can trace a common denominator such as: transferring the dislocated, retained, or constricted tissue through glandular flaps, which will correct the existing deformity and at the same time allow the opening and the extension of the retained and constricted fibrotic mammary base. In other words, through the use of glandular flaps, glandular tissue is transferred from the area of surplus to the area of deficiency.

This chapter considers the different forms of highly hypoplastic tuberous breast and some nontuberous congenital mammary asymmetry, without taking into consideration complex malformations of the chest wall such as pectus excavatum. (However, malformation of the muscular apparatus found in Poland syndrome is discussed Chapter 23.2).

The different types of tuberous breast deformities carry a psychological weight on the young patient and it highly influences young girls’ relationships because of the unusual shape and appearance of their breasts.

The right time to intervene surgically is usually considered when the development of the breasts is clearly complete. But sometimes the decision to intervene more precociously may be taken due to the impact and emotional distress such deformity has on the patient. Of course, such decision should be taken together with the help of a psychologist and with the parent’s approval.

Basic science/disease process

From the embryological development point of view, we can summarize by saying that the mammary bud is differentiated and formed during intrauterine life until birth2 but its full development as the mammary organ occurs at the time of puberty. Such a period may vary from 7–9 to 15–16 years of age depending on different racial and constitutional characteristics.3

From an anatomical point of view, the mammary organ is formed by the split of two superficial layers of the superficial fascia, which continues into the superficial abdominal fascia (“fascia of Scarpa”). The superficial layer and the deeper layer of the superficial fascia lie anterior to the fascia pectoralis. These layers are penetrated by fibrous attachments that originate deeply behind the thoracic muscle, penetrating the parenchyma and the superficial layer of the superficial fascia, anchoring them in front of the derma that covers the breast in a more or less consistent manner.4 These fibrous attachments are called Cooper’s ligaments and represent the so-called suspension system of the breast, which determines the degree of effectiveness of the cutaneous glandular adhesion.

The etiology of the tuberous deformities is neither clear nor well-defined; some authors consider the absence of the superficial layer of the superficial fascia at the level of the areola an important element. Others stress the importance of objective clinical data in which we can observe, in different types of tuberous breast, the presence of a fibrous constricting ring around the areola.5,6 Such a constricting ring can be more or less dense and more or less complete; sometimes, this ring is present only around the inferior half of the areola and extends itself to the inferior pole of the breast, like a fibrotic fascia, preventing or holding back the growth of the mammary gland. According to Mandrekas et al., this fibrotic ring represents a thickening with fibrosis of the superficial fascia or hypertrophy of the Cooper’s ligaments.2 The result, in any case, is that the mammary gland cannot expand in its inferior quadrants.

Almost all publications that discuss the subject of the tuberous breast describe a gland more or less herniated into the areola, with consequent areolar widening. Almost all classifications of the tuberous breast take into consideration this concept and distinguish the various types of deformities according to their location, degree of severity and lack of mammary development in the various quadrants.136 However, in my opinion we should accept this definition and classification only for one type of tuberous breast, defined here as type I (Figs 23.1.1, 23.1.2), and which is characterized by severe hypotrophy of Cooper’s ligaments. The definition is not suitable to describe, e.g., the breast deformity in Case III right breast (see below), which is classified here as tuberous breast type II (Fig. 23.1.3). This type of tuberous breast presents a very small and compacted areola with the gland protruding behind it and pushing the areola forward, without widening it. The areola also presents a strong cutaneous glandular adherence due to hypertrophy of Cooper’s ligaments (Fig. 23.1.6A,B). These morphological clinical features are indeed completely different from those we observe in a type I tuberous breast.

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Fig. 23.1.1 (C) Typical example of bilateral symmetric tuberous breast type I in a 23-year-old female patient, showing a degree of glandular prolapse into the inferior half of the expanded areola. (E–G) Intraoperative sequence: the preoperative evaluation marks a peripheral ring of deepithelialization to lift the areola in order to reduce its diameter thus enhancing its conicity of the areolae, a rhombus of skin is marked in the central inferior portion of the areola which will be excised. This rhombus will correspond to the projection of the glandular herniation. (E) The glandular herniation, which will be used to create the glandular flap type I is clearly evident. (F) The glandular flap sculpted at full thickness down to the deep plane is stretched outward. The flap has been deeply and caudally rotated with its apex toward the new lowered inframammary fold. It is pedicled on the inferior subcutaneous vascular net. The areola has been lifted and flattened in half inferiorly. The mammary prosthesis has been inserted through the existing incisions in a pre-pectoral plane. In this case, a Dow Corning round micro-structured prosthesis of 210 cc has been utilized. (I) The flap is rotated deeply and caudally under the skin of the inferior pole with its apex reaching the new intramammary fold (J). (K)The prosthesis is implanted in a pre-pectoral plane, the areola is lifted and reduced, and the skin is sutured with a periareolar and a very short vertical scar. (M)The prosthesis is implanted in a pre-pectoral plane, the areola is lifted and reduced, and the skin is sutured with a periareolar and a very short vertical scar. (N) The 1-year postoperative result. (O) The five-year postoperative result.

(N,O reproduced with permission from Muti E. The tuberous breast. SEE Editrice Firenze; 2010.)

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Fig. 23.1.2 (A,B) The small glands herniated into two very expanded areolar sacks with an extremely lax and thin skin, presenting numerous cutaneous peri-areolar striae. The nearly total loss of glandular cutaneous adherence in the mammary quadrants is due to atrophy or absence of Cooper’s ligaments. This characteristic is more evident in Fig. 23.1.2C. (D) Preoperative skin markings. (H) The new reduced areola is lifted in its new position. The dermis of the inferior pole is undermined up to the inferior border of the areola. (I) The dermal flap is lifted. The herniated gland is transversally incised at full thickness from the inferior border of the new areola, down to the muscle-thoracic plane. (J) A square-shaped glandular flap is exposed, multiple small incisions on its free margins are performed in order to spread it in fan like shape, allowing a wider distribution along the new inframammary fold. (K) Few transcutaneous stitches are performed fixing into the desired position the free margins of the flap. (L) The flap is fixed into position, the prosthesis is implanted in the pre-pectoral plane, the skin is sutured with a periareolar and a short vertical scar in the inferior pole. (M) Lateral vision at the end of surgery. The prosthesis is placed in a pre-pectoral plane. The glandular flap is folded under the skin of the inferior pole, with the margins fixed at the new IMF with few transcutaneous stitches. The dermal flap from the inferior pole, in this unusual solution, is folded under the areola between the ducts, through blunt dissection, to increase areolar projection. (N) This 10-year postoperative result still shows the good shape, volume and symmetry achieved. (P) This oblique 10-year postoperative result shows the good anatomical shape of the breast with a smooth superior pole and a full inferior pole, although round prosthesis were utilized.

(A,B,D, reproduced with permission from Muti E. The tuberous breast. SEE Editrice Firenze; 2010.)

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Fig. 23.1.2 (C) The small breasts are positioned rather high on the chest wall and very lateralized on the thorax externally to the hemi-clavicular lines. The glandular base, herniated into the areolar sack, is surrounded by a well defined fibrotic constrictive ring which makes the breast appear like hanging on the chest wall. (E) After the de-epithelialization, the reduced areola is lifted and the gland is shown appearing totally herniated and leaning on the thorax. (F) We can observe the thin dermal flap which was covering the inferior pole being undermined and cranially lifted. The mammary gland, seen in Fig. 23.1.2E, exposed and leaning on the thorax, is transversally incised to the level of the inferior border of the new reduced areola. We then proceed to incise the gland at full thickness up to the muscle thoracic plane and to vertically open it in its deep surface, thus creating a wide square shaped flap with an inferior subcutaneous pedicle based on the superficial blood net. (G) The glandular flap has been deeply and caudally folded over toward the new inframammary fold, creating a sort of thin lower pole. (O) The 18-year postoperative result. The scars are slightly evident due to bad skin quality and initial cutaneous suturing tension. (Q) 18 years postoperatively. The result is unchanged over the years, and actually enhancing the natural look of the breast.

(E–G, reproduced with permission from Muti E. The Tuberous Breast – See Editrice Firenze, 2010.)

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Fig. 23.1.3 (A) This preoperative frontal view shows, besides the deformity and the asymmetry, the extreme lateralization of the breasts on the thorax, which makes this case much more difficult to correct. (B) In this case of asymmetry, the author follows his preferred choice: to reduce the bigger breast to the same size and shape of the smaller one by using two equal prosthetic implants on both breasts. This figure shows the drawing of a yellow area with a red dotted line indicating the expected subcutaneous glandular resection to be performed on the left breast in order to match the volume of the right breast. On the right side, it is marked with a red line the new inframammary-fold and the access to the prosthetic pocket. (C) Preoperative view. This view shows the right breast deformity in profile (marked with a red line). The fundamental characteristics of type II tuberous deformity are clearly evident. (D) After BAM, and even though some releasing incisions of the glandular and subcutaneous tissue of the inferior pole have been performed, the breast still appears flat and a certain infra-retro areolar protrusion is still evident. (G) Creation of the glandular pedicled small flap is seen. (I) The flap is inserted under the undermined skin from the central region of the inferior pole. (K) The apex of the flap is positioned and fixed in the desired place, sometimes with few transcutaneous stitches. The inferior pole profile appears completely changed with a round convex shape. (L) This 4-year postoperative result shows the good shape and symmetrization of both breasts is retained. (M) The shape, symmetry, and the natural aspects of the breasts with complete correction of the single lateral deformity are seen.

(D,G, reproduced with permission from Muti E. Local flaps for tuberous and asymmetric breasts. In: Hall-Findlay EJ, ed. Breast surgery. Philadelphia: Saunders Elsevier; 2010.)

In the pathogenesis of these malformations we could assume the existence of a common initial pathogenic element, which differentiating in a precocious manner, produces the formation of different morphological entities which require, in the author’s opinion, a different corrective surgical approach. (See, e.g., the difference between Case II, Figure 23.1.2 and the right breast in Case III, Figure 23.1.3.)

Diagnosis/patient presentation

An accurate diagnosis is a fundamental first step to obtain a successful good result in any medical surgical field, but it is particularly important in aesthetic or dysmorphia surgery which, as for tuberous breast, is more closely related to reconstructive surgery than the purely aesthetic surgery. Such a diagnosis should include not only the patient’s objective examination, localized to the mammary organ, but should also take into consideration a complete examination of the general clinical status and psychological attitude of the patient. Correct assessment of the patient’s general health status and thorough questioning with regard to detailed clinical family and personal history, with specific instrumental examination will greatly reduce or even avoid general postoperative complications. A correct preoperative diagnosis of any morphological malformations enables the most proper surgical correction technique to be chosen.

It is essential that careful attention should be paid to assess the patient’s psychological attitude and her real expectations before any operative planning is made. Such attention will greatly reduce, or even avoid dissatisfaction of the result, and avoid or reduce any potential legal issues. This aspect is often underestimated and represents an elevated risk for the surgeon because it may lead him/her to a “wrong” evaluation. In fact, a young patient is often unable to express clearly her own aesthetic ideas, fears and expectations, and the surgeon may not always possess the necessary skill and preparation to understand this aspect of their patient. The author recommends a private interview with the young patient without the presence of her parents, as they may influence her attitude.

Examination of the patient

Carefully evaluate details such as:

The objective and detailed exam enables placement of the patient into the correct morphological type, corresponding to the author’s own classification (see below), in order to choose the proper preoperative planning.

Classification of the different types of tuberous breast deformity

For long time I (the author) reflected over the necessity for a classification for the numerous and diverse types of tuberous breast, but could not find agreement with the various current proposed classifications.2 However, I can now identify the most important elements that combine into a broad family of similar groups of the numerous diverse forms of tuberous-tubular deformity. After careful consideration, I have distinguished three different types of hypoplastic tuberous breasts: type I, type II, and type III. This chapter presents some significant clinical examples which I have encountered in my practice.

Treatment/surgical technique

General considerations

A number of techniques have been described to correct these breast malformations136 but because of their great polymorphism, it is impossible to adopt a single ideal surgical technique suitable to each single morphological feature or for every type of tuberous deformity. Therefore, in trying to resolve this difficulty, I came to the conclusion that there could be a solution to this problem by adopting a common basic concept which could be modified, adapted and tailored to each single case.

The concept includes the creation of glandular flaps of different shapes designed in such a way to mobilize the mammary tissue and redistributing it according to the need of each single case. Furthermore, with the creation of these flaps, we are able to obtain the opening of the constricted and fibrotic mammary base. The glandular flap sculpted at full thickness down to the pectoralis fascia allows the opening of the mammary base, interrupting the fibrotic constriction present at the base of the breast. To complete the above described manoeuvres, the author performs gland and subcutaneous deep releasing radial incisions according to Rees and Aston1 and Maxwell.6

In less hypoplastic breasts, the desired result is obtained through the so-called deep glandular unfurling flap manoeuvre, also defined as unfurling of the deep surface of the mammary base.4,9,16 Moreover, according to each specific morphologic characteristic, possible correction is performed, such as lifting and reduction of the areola or areolas, tailored reduction of the mammary gland, in cases of asymmetry and reduction of the cutaneous sack. Once the deformity has been completely corrected, we can implant the mammary prosthesis.

The selection of the type of prosthesis (round or anatomical, etc.), the choice of prosthetic pocket, and access for the implant will vary from case to case and is explained during the description of the surgical technique adopted for each single case. In the author’s opinion, it is very important to avoid the use of heavy and large size prosthesis. It is important to remember the young age of many of patients and that the bigger and heavier the prosthesis, the more frequent and more important will be the inconvenience caused by its size and weight: relaxation and thinning of the skin, lowering of the prosthesis with pseudoptosis, and visibility and wrinkling of the prosthetic borders. Smaller and lighter prostheses result in less or inexistent future potential problems. Furthermore, it is now possible to supplement prosthesis where the size is considered insufficient, or to soften the mammary contour through the use of lipostructure according to the Coleman technique.13 With this technique, we may even be able to substitute the use of prosthesis completely. This is a future ideal goal.

Surgical technique

Glandular correction flaps

As discussed above, tuberous deformity of the breast may be classified into three different types, each of them presenting some fundamental common characteristics that can be corrected with its relative type of glandular flap.

The types of glandular flaps are:

Flap type I (variously shaped) is used to correct type I breast deformity. Flap type II is used for type II breast deformity in order to correct the typical deformity of the mammary profile due to retroareolar glandular protrusion. Flap type III and flap type IV are used in different ways to correct other breast type II deformities, according to the particular characteristics present in each single case.

Feb 21, 2016 | Posted by in General Surgery | Comments Off on Congenital anomalies of the breast

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