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22 Breast Anomalies: Diagnosis andTreatment
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Poland Syndrome
Poland syndrome was rst described by Alfred Poland in 1841. After performing an
autopsy on a patient, Poland, who was an anatomy instructor at Guy’s Hospital,
observed the absence of the sternocostal portion of the pectoralis major muscle and
malformations in the ipsilateral upper limb.
The etiology of Poland syndrome is still unknown. However, studies suggest that
there may be a genetic inuence or even that extrinsic factors, between the sixth and
the eighth week of pregnancy, may interfere with the migration process of the pectoralis major muscle and the separation of the ngers that occurs in this period.
However, the manifestations of PS are more frequently observed in adolescence,
progressing with breast hypoplasia, asymmetry of the nipple-areola complexes, and
depression of the affected hemithorax. At this stage, these deformities generate a
high degree of anxiety in patients with serious psychosocial repercussions.
Therefore, it is common to search for medical advice to be made for merely aesthetic purposes. When the changes are restricted to the pectoralis major muscle and
breast hypoplasia, cases are often diagnosed as breast asymmetry. Based on the
above, the disease presents with a wide range of manifestations (Poland 1841;
Larizza and Maghnie 1990; Beals and Crawford 1976; David and Winter 1985;
Rasjad and Sutiaksa 1991; Marks et al. 1991; Ribeiro et al. 2009; Seyfer et al. 2010).
Regarding surgical options, Ribeiro and Seyfer propose different approaches
depending on the degree of presentation of each case. Thus, in the mild form (rst
degree) of the disease (Fig.22.5), the inclusion of breast implants is the best option
in adult patients. In adolescents, on the other hand, due to breast growth, the inclusion of an expander prosthesis is prudent. In moderate cases (second degree), it may
Fig. 22.5 Poland
syndrome (I mild)
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Table 22.1 Poland syndrome classication
Breast
Classication
1 (mild) Breast
2 (moderate) Hypomastia Absent Absent Absent
3 (severe) Amastia Different
anomalies
asymmetry
Thoracic wall
deformities
Absent Absent Absent
deformities
Ipsilateral arm
alterations
Present Present
R. C. Ribeiro et al.
Other congenital
deformities
be necessary to expand the tissue beforehand and then include customized or noncustomized implants, with coverage of local aps or even distant aps. In very
severe cases (third degree), the use of implants is always accompanied by a latissimus dorsi myocutaneous ap or another ap such as a microsurgical or pedicled
rectus abdominis ap,either way, additional procedures in the contralateral breast,
such as symmetrization and/or the nipple-areola complex are almost always needed.
In Table22.1, the authors summarized the deformities present in mild, moderate,
and severe presentations of Poland syndrome.
References
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girl: A case for breast conservation. Breast J. 6: 418, 2000.
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Hsieh, S.C., Chen, K.C., Chu, C.C., and Chou, J.M. Juvenile papillomatosis of the breast in a
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Selamzde, M., Gidener, C., Koyuncuoglu, M., and Mevsim, A.Borderline phylloides tumor in an
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Murphy, J.J., Morzaria, S., Gow, K.W., and Magee, J.F. Breast cancer in a 6-year-old child.
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Lin, K.Y., Nguyen, D.B., and Williams, R.M.Complete breast absence revisited. Plast. Reconstr.
Surg. 106: 98, 2000.
Smith, D.J., Palin, W. E., Katch, V., and Bennett, J.E. Surgical treatment of congenital breast
asymmetry. Ann. Plast. Surg. 47: 92, 1986.
Rees, T.D., and Aston, S.The tuberous breast. Clin. Plast. Surg. 3: 339, 1976.
Meara, J.G., Kokker, A., Bartlett, G., Theile, R., Mutimer, K., and Holmes, A.D. Tuberous breast
deformity: Principles and practice. Ann. Plast. Surg. 4S: 607, 2000.
Poland A.Deciency of the pectoral muscles. Guy’s Hospital Reports. 1841; 6:191.
Larizza D, Maghnie M.Poland’s syndrome associated with growth hormone deciency. J Med
Genet. 1990; 27: 53-55.
Beals KR, Crawford S.Congenital absence of the pectoral muscle. Clin Orth Relat Res. 1976;
119:166-171.
David TJ, Winter RM.Familial absence of the pectoralis major, serratus anterior, and latissimus
dorsi muscles. J Med Genet. 1985; 22: 390-392.
Rasjad C, Sutiaksa IGP.A case report of Poland’s syndrome from Indonesia. Aust N Z J Surg.
1991; 61: 320-322.
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Ribeiro, R.C., Saltz, R., Mangles, M.G.M., Koch, H.Clinical and radiographic classication of
Poland’s Syndrome—A proposal. Aesthetic Surgery Journal 2009 29: 494
Seyfer, A.E., Fox, J.P., Hamilton, C.G. Poland Syndrome: Evaluation and Treatment of the Chest
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Chapter 23
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Tuberous Breast
RicardoCavalcantiRibeiro, CarolinaDurán,
andLuisFernandezde Córdova
Abstract Tuberous breast syndrome refers to a deformity of the breast clinically
presenting with hernia of the parenchyma through the nipple-areolar complex
(NAC) and may involve varying degrees of breast hypoplasia; it was so named for
its similarity with the tuberous roots of plants. This condition affects young women
and can bring on serious disorders of self-esteem and psychosocial distress.
The deformity is characterized by hypoplasia, breast base constriction, inferior
breast skin deciency, superior malposition of the inframammary fold, areolar herniation, increased areolar diameter, and asymmetry. This series of morphologic
alterations become evident at puberty with a wide spectrum of expression.
The term was rst described in 1976 by Rees and Aston, and the exact incidence
and prevalence are unknown, and the etiology is unclear, because of underdiagnosis
and lack of clinical correlation in cases of breast asymmetry. Apparently, there is no
R. C. Ribeiro (*)
Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil
Division of Plastic and Reconstructive Surgery, Casa de Portugal Rio de Janeiro,
Rio de Janeiro, Brazil
Plastic and Reconstructive Surgery, Carlos Chagas Institute, Rio de Janeiro, Brazil
e-mail: rribeiro@centroin.net.br
C. Durán
Division of Plastic and Reconstructive Surgery, Casa de Portugal Rio de Janeiro,
Rio de Janeiro, Brazil
L. F. de Córdova
Division of Plastic and Reconstructive Surgery, Casa de Portugal Rio de Janeiro,
Rio de Janeiro, Brazil
Plastic and Reconstructive Surgery, Carlos Chagas Institute, Rio de Janeiro, Brazil
Division of Plastic and Reconstructive Surgery, Global Plastic Surgery, México City, Mexico
Switzerland AG 2023
J. M. Avelar, R. Cavalcanti Ribeiro (eds.), Body Contouring,
https://doi.org/10.1007/978-3-031-42802-9_23
361© The Author(s), under exclusive license to Springer Nature
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R. C. Ribeiro et al.
family incidence, and the presence of a noxious stimulus early in pregnancy responsible for a failure in differentiation in a limited zone of the fetal thorax has not been
established.
There are two hypotheses for this condition; one of them is the hormonal stimulus. It seems that the quality and quantity of the hormonal stimulus are not different
from normal, but we know that it is in the lower quadrants which are the most
affected that have less glandular tissue and less hormonal receptors.
The second hypothesis is an anomaly of the breast structures, which could be the
abnormal supercial fascia, weakness of the periareolar supporting tissues, or a
strong adherence between the dermis and the muscular plane at the lower quadrants
of tubular breasts, which could restrict peripheral expansion of the breast, resulting
in the tubular appearance due to forward tunnelization of breast tissue. Together,
these theories describe how the supercial fascia thickening can cause constriction
to the breast, combined with the absence of the supercial fascia under the areola
predisposing to herniation.
Tuberous breast deformity presents itself in varying degrees, a classication for
this degrees was rst published by von Heimburg in 1996 describing four types:
type I, hypoplasia of the medial lower quadrant; type II, hypoplasia of both lower
quadrants with sufcient skin in the subareolar region; type III, hypoplasia of both
lower quadrants with deciency of skin in the subareolar region; and type IV, hypoplasia of all quadrants with severe breast constriction.
There are numerous surgical techniques to correct this condition, most of them
aimed at redistributing volumes based on a combination of skin expansion and
mammary gland remodeling. Prostheses and locoregional aps can also be used to
replace the missing volume. Fat grafting to the breast is another technique that has
become popular. When combined with techniques such as external tissue expansion,
the graft capacity ratio and recipient site vascularity increase, allowing for large
graft volume.
Keywords Tuberous breast · Breast aesthetics · Hypoplastic breast
The term “tuberous breast” is used to dene a syndrome consisting of a hypoplastic
alteration of the breast, where there is a base of insufcient diameter for the glandular content, accompanied by a pseudo-herniation of the same through the areola,
with a decit of skin wrap and a poorly positioned inframammary crease, which is
usually located above the desired location, thus giving the tubular appearance that
identies it (Ribeiro et al. 2018a, b). This entity is not recognized as a medical condition or actual disease but, apparently, has a strong association with other types of
deformities, as elaborated in an article published by DeLuca-Pytell etal. This was a
review of the incidence of tuberous breasts in 375 patients undergoing mammoplasty who only sometimes presented mammary asymmetry. It was performed
through a retrospective preoperative analysis and presented interesting results, for
example, that 80.1% of patients who underwent mammoplasty had mammary
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asymmetry, and of the patients with asymmetry, 80.8% had some type of tuberous
breast, compared with only about 7% of patients with symmetrical breasts. This
strong association can provide the etiology, which remains unknown, and the development of optimal techniques for treatment.
363
History
The concept of tuberous breasts has been studied as a change in breast morphology
since the last century, although Longacre (1954) and Goulian (1971) had studied
this breast alteration and proposed its treatment with the use of a dermoadipose
pedicle to enlarge the breast base. It was only in 1976 that Rees and Aston described
it as a “tuberous breast” for the rst time. Several authors actively participated in
search techniques for the correction of this abnormality, and so far, innovative techniques have been published with satisfactory results. Given that breasts identify a
woman’s femininity and that their function is not limited to breastfeeding and raising children and as they play a key role in sexual development and social acceptance, we can consider it important that the changes they reach are harmonious in
appearance or they can otherwise cause unwanted psychological conduct with falling levels of self-esteem and stress of neurotic or bipolar disorders that could generate a progressive and destructive dissatisfaction with a woman’s personal
development.
Ribeiro etal. described a technique that uses an exclusive periareolar approach
with horizontal incisions in the parenchyma and preparation of the inferior pedicle
base, with resection of the medial and lateral extensions and xing of the same in
the chest wall, folding the pedicle base on itself. This technique enables correction
of the shape of the breasts by lling the lower hypoplastic quadrants (Ribeiro et al.
2018a, b, c, 2002; Jurado 1976; Pitanguy 1984; Robbins 1977; Rohrich et al. 2004;
Wallace et al. 1998).
In 2003, (Mandrekas et al. 2003) advocated a similar approach, but with a vertical incision in the parenchyma in a 6 o’clock semi-axis position and its separation
into two pillars. Since 1983, the use of combined periareolar and inframammary
incisions associated with breast implants has been described by Teimourian and
Adham. Most patients with tuberous breast desire an increase in breast volume and
improvement in shape, both of which are provided by this technique.
Since Coleman popularized lipolling technique, it has become a recognized
therapeutic tool for soft tissue augmentation. Khouri made a signicant contribution
with the introduction of external expansion to address the necessary capacity to
graft ratio needed for successful outcomes. The number of sessions depends on the
extent of the deformation, quality of the recipient site, and patients’ adipose reserves.
The presence of brous tissue in tuberous breasts makes fat grafting more difcult
to perform; using external tissue expansion might prepare the recipient site by altering the brous aspect of the tissue, especially in the lower pole, which helps to
accomplish the natural appearance and consistency of the breast.
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R. C. Ribeiro et al.
Embryology andAnatomy
Embryologically, breast development begins from the ectoderm in the fth week of
intrauterine life, responsible for the close relations between the gland and the skin
that becomes a real unit ensheathed by the mesenchyme. Between 10 and 14weeks,
the mammary buds of the thoracic region are surrounded by a layer of mesodermal
tissue called the supercial fascia. Both glandular and nipple-areolar growth is complete at puberty, and the supercial fascia is the main structure responsible for forming conical breasts.
The formation of the mammary gland begins before sexual differentiation. The
development of the mammary ridge or milk line, which is a surface spread of
embryonic ventral ectoderm, extending from the axilla to the inguinal bilaterally,
begins by the fth week of embryonic life. The mammary crest, from which usually
develops a single pair of mammary glands, disappears in human embryos at around
the seventh week, persisting in only a small portion of the pectoral region. This
involution of the milk crest is characteristic of the human species. Subsequently,
there is invagination of the local ectoderm that will form the primary breast bud,
which will give rise to 15 or 20 secondary branches. At rst, these sprouts, consisting of ectodermal cells, are massive and branch out into the middle of the mesenchyme. In the third trimester of pregnancy, the ducts become tunneled, with a light
appearance in their interior, open out into the mammary pits, which rise and form
the nipple. The ramications of the ducts end in a blind bottom, constituting lobular
duct units or cellular terminals. Breast engorgement and secretion of colostrum, due
to hormonal stimulation from the mother through the placenta, occur in approximately 80% of infants of both sexes. There is spontaneous regression of this phenomenon around the third or fourth week after birth, with the gradual elimination of
hormones by the conceptus. Until the onset of puberty, the female breasts usually
remain underdeveloped, starting development with ovarian stimulation that begins
in this period. From then on, the development is glandular, together with the fat and
connective tissue. During pregnancy, the development of the mammary glands is
completed. Russo and Russo describe the development of the breasts, especially in
their early years, to make the biological phenomena that govern the mammary epithelium comprehensible: nulliparous breasts consist of type I lobes, also called virgin lobes, because they are present before menarche. This type is the most
undifferentiated. The lobes are formed of clusters of 6–11 ductules per lobe. Type II
lobes are formed from the rst; they have a more complex morphology and are
formed by a larger number of ductular structures per lobe. Type III are characterized
by having an average of 80 ductules or wells per lobe. They are often found in
women on hormone therapy and during pregnancy. Type IV lobes are considered the
ultimate expression of development and differentiation. They are found during
pregnancy and lactation and, furthermore, are not noticed in nulliparous women in
the post-puberty period. This differentiation diminishes the possibility of breast
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365
cancer—a pregnancy to term before the age of 24, according to those authors,
reduces the relative risk (RR) of breast cancer development fourfold. Changes in
breast morphology can be divided according to the time they are diagnosed into
congenital and development and from the pathophysiological point of view and
functional morphology. But many of these morphological changes can coexist with
functional problems; thus, the authors consider the rst classication more
appropriate.
General Aspects
Clinical ndings: Tuberous or tubular breasts are characterized as:
– Deciency of glandular tissue plus elongation.
– Enlargement and swelling of the NAC.
– Constriction/herniation.
– Narrow base.
– Absence or poor lower pole.
– Association with other congenital breast diseases (Figs.23.1, 23.2 and 23.3).
Fig. 23.1 Tuberous breast with asymmetry
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Fig. 23.2 Tuberous breast grade II
R. C. Ribeiro et al.
Fig. 23.3 Tuberous breast grade III with asymmetry
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367
Classication
Morphologically, various proposals for tuberous breast classication have been
described, one of which was advocated by Meara etal. (2000), which is most frequently used today. However, von Heimburg in 1996 presented a more rened version of this classication, which we consider adequate for academic purposes and is
useful in comparing the postoperative results of procedures performed by different
surgeons using different techniques to dene the degree of correction of the defect.
Based on this classication, the deformities can be classied into type I (hypoplasia
of the medial lower quadrant), type II (hypoplasia of both lower quadrants), and
type III (hypoplasia of the four quadrants with severe breast constriction). These
types of breast shape deformities have in common a breast base anomaly that results
in different degrees of clinical severity.
Grolleau etal. (1999) proposed another classication, which divides the breast
into four quadrants and determines three degrees of deformity. Grade I corresponds
to 56% of the cases. The lack of development is limited to the lower internal quadrant. The areola is deviated downward and inward, the volume of the breast being
normal or hypertrophic. Grade II corresponds to 26% of the cases. The two lower
quadrants are decient in their development. In these cases, the areola is deviated
looking downward. Grade III corresponds to 18% of the cases. All quadrants are
affected and decient, the mammary base is retracted, and the breast has a tuber or
goat appearance.
Surgical Technique
With the patient in a semi-sitting position, a new areola is marked with the aid of
4–5cm in diameter areola marker. The new submammary fold is marked, normally
positioned 1.5–2cm below the original.
The periareolar region is de-epithelialized in a donut fashion; the skin of the
inferior half breast is incised and then undermined to pectoralis fascia (Fig.23.4).
Dissection continues down to new inframammary fold and then upward behind the
breast parenchyma (glandular aps Mandrekas/Ribeiro) (Fig.23.5).
Division of the breast into two aps is performed, one with a superior areolar
pedicle and the other with an inferior pedicle, carefully releasing the medial and
lateral extensions of the superior ap the subglandular pocket is created either for
expanders or for permanent implants to be placed (Fig.23.6).
The aps must be handled carefully in order to avoid injuring the intercostal
perforating vessels that supply the aps.
The lateral and medial portions of the inferior pedicle are resected, ready to be
inverted on itself to create the inferior pole of the breast and xed with nonabsorbable suture in the inferior part of the fascia of the pectoralis major muscle.
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