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Bilateral congenital amazia: A case report and systematic review of the literature
Journal of Plastic, Reconstructive & Aesthetic Surgery (2014) 67, 27e33
REVIEW
Bilateral congenital amazia: A case report and systematic review of the literature Stephanie E. Dreifuss, Zoe M. MacIsaac, Lorelei J. Grunwaldt* Department of Plastic Surgery, University of Pittsburgh, 3550 Terrace Street, 6B Scaife Hall, Pittsburgh, PA 15261, USA Received 17 April 2013; accepted 29 June 2013
KEYWORDS Congenital; Breast; Amazia; Reconstruction
Summary Background: Congenital breast anomalies present challenging management decisions to the plastic surgeon. One must consider the optimal age of reconstruction as well as the ideal surgical technique. Amazia, a very rare condition characterised by a complete lack of breast tissue in the presence of a nipple areolar complex (NAC), is one such congenital breast anomaly. Methods: A comprehensive systematic review of the literature was performed to examine the various approaches to reconstruction of congenital breast anomalies. From this review, the data compiled included patient demographics and operative details, including type of reconstruction, treatment of the contralateral breast and treatment of the NAC. A case of bilateral amazia is also reported. Results: Of 178 articles, 13 ultimately met the inclusion criteria and 54 individual patient reconstructions were identified from these papers. At the time of reconstruction, the patients were in the range of 13e54 years, with an average age of 27.6 years. Prosthetic and autologous reconstructions were equally represented (19 patients each, 35.2%; Table 2). Autologous reconstruction with prosthesis was slightly less common (15 patients, 27.8%). One patient was reconstructed using autologous lipo-augmentation only. Of the 36 cases in which the approach to the NAC was addressed, most (66.7%) were not reconstructed. Conclusions: Amazia is a very rare congenital anomaly of the breast. This systematic review of the literature highlights the need for better reporting and examination of this type of data to allow for future study and to better advise on decision making regarding the timing of reconstruction, surgical technique and the approach to the NAC. ª 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
* Corresponding author. Division of Pediatric Plastic Surgery, Children’s Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Floor 3, Pittsburgh, PA 15224, USA. Tel.: þ1 412 692 3433; fax: þ1 412 692 8614. E-mail address: [email protected] (L.J. Grunwaldt). 1748-6815/$ - see front matter ª 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.bjps.2013.06.048
28
S.E. Dreifuss et al.
As a whole, congenital breast anomalies including hypoplasia, amazia and amastia are common in the paediatric population.1,2 Despite the relative frequency with which these conditions are encountered in clinical practice, the literature is lacking in quantitative reviews of how to manage these patients. Therefore, a systematic review of the existing literature was conducted on congenital breast anomalies allowing an analysis that provides data summarising the age of reconstruction, surgical technique and management of the nipple areolar complex (NAC). Additionally, we present an unusual case of a patient who presented with congenital amazia.
Case presentation A 13-year-old female presented to the paediatric plastic surgery clinic with bilateral, congenital absence of the breasts and low-set NACs. Normal pubertal development was noted with Tanner stage V pubic hair and with onset of menses at 11 years of age. At birth, she was found to have right foot postaxial polydactyly, bilateral syndactyly of the second and third toes, left ptosis and amblyopia, frontal upsweep of the hairline and low-set, posteriorly rotated ears. Chromosome analysis, renal ultrasound and skeletal survey were all normal, and family history was unremarkable. The patient was seen by Genetics and a normal chromosomal analysis was confirmed; additionally, a syndrome was not identified. Of note, the patient complained of low self-esteem and social isolation due to the complete absence of breasts. She was diagnosed with amazia. Physical examination revealed no palpable breast tissue. The patient’s NACs were positioned on the chest at the midhumeral point, which many use as a reference point for normal nipple position. However, in this case, their position relative to other landmarks on the thorax made them appear to be sitting too far inferiorly. The NACs were sitting at the ideal position for the new inframammary fold (Figure 1). The distance from the midsternal notch to the NAC was 23 cm on the right and 22 cm on the left, and the proposed breast pocket diameter measured 11e12 cm. Other findings included an accessory nipple on the left abdomen as well as axillary fullness that felt like fatty tissue. Hormone levels were normal and a breast ultrasound revealed no hormonesensitive glandular tissue. Wrist radiographs revealed fused growth plates with a bone age of 15 years. The patient was counselled that given her young age and the fact that she was likely still growing, it would be prudent to wait to do the reconstruction. She was suffering from
Figure 1
significant psychological disturbance secondary to her deformity. Socially she was isolated and would not participate in age-appropriate activities with her peers. After seeing the patient back several times over a 1-year period, the decision was finally made to proceed with reconstruction. Surgical options were discussed. This patient wanted a small- to moderate-sized breast mound, and thus a postoperatively adjustable implant was selected for her reconstruction.
Surgical procedure The patient was taken to the operating room for placement of bilateral, subpectoral, dual-plane, postoperatively adjustable saline implants. These were placed via periareolar incisions with a lateral extension. The dissection was extended down to the pectoralis muscle in a subcutaneous plane. On the right side the subcutaneous dissection was done for a slightly greater distance superiorly prior to division of the pectoralis muscle as the NAC was sitting slightly more inferiorly on this side. The pectoralis was released bilaterally from the 3 o’clock to the 9 o’clock position and the pocket was extended superiorly such that the implant would sit in a dual plane once inflated. The final pockets measured approximately 11e12 cm in diameter. Postoperatively adjustable saline implants (Mentor Smooth Round Spectrum implants) measuring 10.8 cm in diameter were placed. The projection was 3.5 cm and the maximum fill volume between 225 and 270 ml. A remote port was placed in a lateral pocket near the midaxillary line and attached to the expander in a standard fashion. In-office expansion was initiated 2 weeks postoperatively and terminated at a fill volume of 270 cc. The patient tolerated these expansions well and her implants remained symmetrically positioned on the chest wall (Figure 2). Approximately 1 year after the placement of the implants, the patient returned for repositioning of the NACs. The patient was taken to the operating room for bilateral free nipple grafts. The donor sites were closed primarily. The grafts were secured in place with a Reston foam bolster such that the nipples were visible. The patient was admitted postoperatively and had some superficial slough of the areola and partial loss of the nipple itself. However, she did heal with an aesthetically acceptable result (Figure 3).
Systematic review A systematic review of the literature was performed using the PubMed for MEDLINE articles. Search strategies
Patient before reconstruction.
Bilateral congenital amazia
29
Figure 2
Patient after placement of implant.
included queries for “Mammaplasty” MeSH þ “Breast/abnormalities” MeSH “Breast Diseases/Congenital” MeSH; “Amazia” [Title/Abstract] and “Amastia” [Title/Abstract] for the period between 2003 and March 2012. Papers written in English, French and Spanish were considered. Titles and abstracts were screened by two different reviewers. Full articles, consisting of those with insufficient information to be excluded based on the abstract and title, were then obtained for potential studies of interest. The inclusion criteria consisted of a description of the operation and a discussion of breast reconstruction for congenital conditions including amazia, amastia and breast hypoplasia. The exclusion criteria included the lack of operative details, insufficient patient-specific information (such as mention of general surgical procedures without reference to specific patient cases), description of reconstruction for deformities other than those included and languages other than English, French or Spanish (Figure 4). Reference lists of included articles were then reviewed for potential additional articles. Data were compiled for average age and range, months of follow-up and number of patients for each paper. Operative details were included for each individual case in which the reconstruction had been completed. These details included the type of reconstruction, specific surgical approach (choice of flap, type of implant and implant placement), treatment of the contralateral breast and treatment of the NAC. The authors had no conflicts of interest or sources of support to disclose in this systematic review.
Results Of 178 citations initially identified in this systematic review, 13 articles ultimately met the inclusion criteria (Table
Figure 3
1).3e15 All included articles were identified from the PubMed literature search. Of these, a total of 54 individual patient reconstructions were identified. Patients were on average 27.6 years of age at the time of reconstruction (range of 13e54). For studies which included follow-up, 14.3 months was the average, although several studies lacked follow-up beyond the immediate postoperative period.3,5,7,13,15 Prosthetic and autologous reconstructions were equally represented (19 patients each, 35.2%; Table 2). Autologous tissue reconstruction with prosthesis was slightly less common (15 patients, 27.8%). One patient was reconstructed using autologous lipo-augmentation only. The majority of cases that detailed prosthetic reconstruction did not include information regarding the type of implant or placement. Of those that did include this information, silicone and saline prostheses were chosen at a similar frequency (eight and six patients, respectively). Most implants were placed in a submuscular, rather than subglandular, location (nine patients vs. one patient, respectively; Table 3). For prosthetic reconstruction, hypomastia was the most frequent condition being addressed (15 patients, 78.9%), while amazia and amastia were less common (three patients, 15.9% and one patient, 5.2%, respectively; Table 4). Regarding autologous reconstruction, omental flaps were the most frequently reported flaps to be implemented (11 patients, 31.4%; Table 5). Other flaps were reported with relatively similar frequencies. Few articles described the management of the NAC (Table 6). Of the 36 patients described, the majority was not altered surgically (24 patients, 66.7%). In several cases, the NAC was surgically reconstructed (seven patients, 19.4%), while for several patients, the NAC was described
Patient after final reconstruction.
30
S.E. Dreifuss et al.
Figure 4
Schematic of search strategy for systematic review.
preoperatively but not postoperatively (five patients, 13.9%). Only patients with absent NAC preoperatively or superiorly displaced NAC preoperatively underwent NAC reconstruction (five of nine patients and two of ten patients, respectively). Many patients with unilateral deformity received surgery on their contralateral breast (Table 7). Of the 50 unilateral cases, no treatment of the contralateral breast was the
Table 1 search. Paper
Overview of all cases identified in literature Number of Age at Follow-up patients Reconstruction (mos) (years)
Costa et al., 2010 11 Derman et al., 2004 1 Freitas et al., 2007 8 Garcia et al., 2007 1 Gautam et al., 2007 12 Hatano et al., 2011 1 Klinger et al., 2009 1 Liao et al., 2005 1 Lin et al., 2000 1 Nassab et al., 2005 1 Ozsoy et al., 2007 1 Pinsolle et al., 2008 7 Spear et al., 2004 8
26.8 [18e53] [15e18] 23.2 [14e36] 31 27.2 [16e43] 54 26 52 33 16 17 23.0 [13e40] 32.1 [18e40]
e 39 e 15 e 6 18 12 6 1.5 e 12 e
most common (14 patients, 28.0%), followed by implant placement (11 patients, 22%) and lastly mastopexy (seven patients, 14.0%). Overall, of those patients with unilateral deformity where a definitive statement was made regarding treatment of the contralateral, unaffected breast, more than half received surgery on their contralateral breast, in order to match the normal breast with the reconstructed breast.
Discussion Congenital amazia is defined as the absence of glandular breast tissue with a normal NAC. Related conditions include congenital athelia where only the NAC is absent, amastia where both the mammary tissue and the NAC are absent, breast hypoplasia where there is a deficiency of mammary tissue and Poland’s syndrome where the pectoralis muscle is also absent.16 Normally, breast tissue originates from an anlage of ectodermal cells along primitive, paired mammary ridges. These are present at around the sixth week of gestation and extend from the axilla to the groin. Between weeks 7 and 10 of gestation, the upper and lower regions of these milk lines undergo apoptotic atrophy, while the middle or pectoral ridges persist at the level of the fourth intercostal space. This primordial breast tissue penetrates the underlying mesenchyme between weeks 10 and 14 of gestation, and the mesenchymal tissue forms the superficial fascial system and suspensory ligaments of the breast. Finally, the
Bilateral congenital amazia
31
Table 2 Reconstruction of congenital amazia, amastia and hypomastia. Reconstruction
n of Cases (%)
All Prosthesis Autologous flap Autologous flap þ Prosthesis Fat grafting only
54 19 19 15 1
(100) (35.2) (35.2) (27.8) (1.8)
Table 4 Prosthetic reconstruction by implant type and breast condition. n of Cases (%) Breast condition (%) Amastia Amazia All Silicone Saline Unknown
19 (100) 8 6 5
1 (5.2)a 1 0 0a
Hypomastia
3 (15.9) 15 (78.9)a 1 6 1 5 1 4
a
10 of the 100 cases were not specified as either amastia or hypoplasia.
areola develops at a pectoral position along the milk line at approximately the 20th week of gestation, while the nipple appears after birth.1,16 It is hypothesised that in this particular case the patient’s breast deformity may have resulted from atrophy of the entire mammary ridge between weeks 7 and 10 of gestation. Subsequently there was no development of a breast or NAC in the normal position; the primordial breast tissue did not penetrate the underlying mesenchyme at the location of the patient’s areola that formed at 20 weeks. Her inferiorly positioned NACs may actually have been an accessory nipple or NACs along the milk line that did not properly regress. While few other cases of bilateral amazia have been reported, other authors have detailed congenital conditions that affect breast and nipple development. Poland’s syndrome has a one in 100,000 incidence, affecting males 3 times more frequently than females. The condition is most often unilateral, but may sometimes present bilaterally. The absence of the sternocostal head of the pectoralis major muscle is pathognomonic for this condition, while it may be accompanied by malformations of the ipsilateral torso and upper extremity or absence of the NAC.17 Congenital ectodermal defects are associated with amastia and affect male and female patients equally. Because it is a sex-linked trait, males present with more severe malformations. The typical patient presentation includes bilateral amastia with associated abnormalities of the skin, skin appendages (hair, eccrine glands and sebaceous glands), teeth and nails.2,11,18 Bilateral amastia has been described as an isolated finding or with other associated anomalies. Examples of these accompanying findings from reported cases include scant axillary and pubic hair, cleft or high-arched palate, absence of a finger or lobster claw deformity and others.11,18 In addition to the case described here, two cases of bilateral amazia had been reported, demonstrating the rarity of this condition.18 These two cases of amazia were
accompanied by bilateral choanal atresia and midface hypoplasia, respectively. As in our case, these patients had unremarkable family histories and no known chromosomal abnormalities.13,19 Though our systematic review made a distinction between amastia, amazia and breast hypoplasia, many of the articles used only a clinical diagnosis to verify the presence or absence of breast tissue. In order to definitively diagnose one of these conditions, complementary testing such as ultrasound or mammography should be used as a supplement to the physical exam. Thus, some of the articles featured in our systematic review might be inaccurately reporting hypoplasia or amazia. The latter underscores the important role of supplemental imaging in arriving at a correct diagnosis in patients with congenital hypoplastic breast abnormalities. As would be expected for such rare conditions, there is paucity in the literature regarding the surgical approach to reconstructing hypomastia, amazia and amastia; only 13 articles described reconstruction, including 54 individual patients. The lack of peer-reviewed articles on amazia is in sharp contrast to the number of articles on the subject of breast hypoplasia. If an unlimited-time MEDLINE search is conducted, a search for ‘amazia’ returns only four articles, while a search for ‘breast hypoplasia’ returns 5219. Among decisions pertinent to breast reconstruction in this patient population are age at reconstruction and type of reconstruction (autologous vs. prosthetic reconstruction). Timing is crucial: while breast abnormalities have less functional impact, psychological sequelae resulting from embarrassment and social isolation are important considerations in the adolescent patient.20
Table 5
Autologous reconstruction. n of Cases (%)
Table 3 position.
Prosthetic reconstruction by implant type and n of Placement Cases (%) Submuscular Subglandular Unknown
All Silicone Saline Unknown
19 (100) 9 (47.4) 8 3 6 6 5 0
1 (5.2) 1 0 0
9 (47.4) 4 0 5
All Omentum DIEP LD SGAP TRAM SIEA IGAP Lipo-augmentation Unknown
34 11 5 5 4 3 3 2 1 1
(100) (31.4) (14.3) (14.3) (11.5) (8.6) (8.6) (5.7) (2.8) (2.8)
32 Table 6
S.E. Dreifuss et al. Management of the NAC.
NAC
n of Cases (%)
All Absent Superior displacement Hypoplasia Superior Displacement þ Hypoplasia No abnormality
36 9 10 4 9 4
(100) (25.0) (27.8) (11.1) (25.0) (11.1)
The age at reconstruction from our literature search ranged from 13 to 54, possibly due in part to lack of access and education regarding reconstructive options. One patient visited a plastic surgeon at 18 years of age and was informed that there were no options; her reconstruction was not performed until 54 years of age when she again consulted a plastic surgeon.8 While it may be ideal to correct congenital breast anomalies during the late teens so as to limit the degree to which growth will impact the reconstruction, earlier reconstruction at 11e12 years should be considered given psychological concerns.16,20 Ideally, reconstruction should be performed when the patient’s peers are developing breasts as this process impacts adolescent females’ psychosocial growth and self-esteem.1 Our patient’s primary concern was low self-esteem and social isolation, leading us to reconstruct her breasts at 13 years of age. This patient was suffering psychological consequences from not having breasts. While some surgeons would elect to wait to reconstruct the breasts given the limited number of options available in a 13-year-old, here we chose to proceed with an implant-based reconstruction using a postoperatively adjustable saline implant with a remote port. In one study, the mean age of patients receiving surgery for hypoplastic breast abnormalities was 16.7 years, with patients undergoing an average of 1.5 surgeries.2 Given this patient’s young age and so as to ascertain whether the patient’s skeletal growth was complete, a wrist X-ray was obtained to look at skeletal age. It showed growth-plate fusion indicating skeletal maturity. This finding allowed for proper positioning of the reconstructed breasts on the chest wall given the very low-set NACs. Ultimately, the breast mound was positioned relative to the sternal notch and the chest width. It is important that patients and their families, in conjunction with their primary-care physician, be presented the surgical options when discussing breast
Table 7
NAC Reconstruction Yes (%)
No (%)
Unknown (%)
7 (19.4) 5 2 0 0 0
24 (66.7) 2 8 4 9 1
5 (13.9) 2 0 0 0 3
deformities, in order to allow them to make the best decision regarding reconstructive treatment. In our systemic review of breast reconstruction in the setting of amazia, we found several reports, although too few to perform an objective analysis or to guide our operative decisions. Both prosthetic and autologous options have been described with reasonable follow-up and few reported morbidities. In the hopes of determining optimal approach, it is important that these cases continue to be reported. As with other operations, the optimal reconstruction technique depends on patient-specific factors, the surgeon’s skills and patient and surgeon preferences. In the case presented here, given the patient’s age, postoperatively adjustable implants/expanders were selected in order to maintain an appropriate size for her stage of growth and development. These expanders have a size range in which they can be filled allowing the plastic surgeon to add fluid and thus increase the size of the breast as the patient grows. Also, if the patient is ultimately happy with a saline implant, the remote port can be easily removed in an outpatient procedure and the implant can function as the final reconstruction for several years. In a 13-year-old female, one could certainly entertain autologous reconstruction options. In her case, given the complete lack of breast tissue, one would have to reconstruct the breast mound with a deep inferior epigastric perforator (DIEP) flap or a transverse rectus abdominis myocutaneous (TRAM) flap. She did not have enough excess abdominal tissue to allow this. Also, doing an implant-based reconstruction does not prevent the surgeon from doing autologous reconstruction in the future. The patient wished to have a small breast mound and did not want a drastic change in her appearance. The reconstruction chosen met her current desires, although further reconstructive surgery may be needed in the future.
Management of the contralateral breast (unilateral cases only).
All Amastia Amazia Hypomastia Unknown
n Cases (%)
Reduction (%)
Implant (%)
Mastopexy (%)
None (%)
Unknown (%)
50 (100) 6 11 22 11
2 (4.0) 0 0 1 1
11 (22.0) 0 1 8 2
7 (14.0) 1 2 1 3
14 (28.0) 2 2 5 5
16 (32.0) 3 6 7 0
Bilateral congenital amazia
Conclusion This unique presentation of the management of bilateral congenital absence of the breasts accompanied by inferiorly displaced NACs merits discussion as it presents a unique challenge to the plastic surgeon. The timing of surgery, procedure selection and approach to the NAC are challenging and require consideration given the significant impact on a patient’s psychosocial development and quality of life. Discussions of this problem and related conditions in the literature are primarily limited to case reports and case series. To further add to the body of literature, a summary of the existing data was done via a systematic review of the literature. Although there are numerous publications in the literature about congenital breast anomalies, the data are rarely complete, thus making it difficult to come to a consensus about the best practice. Further studies that include larger volumes and more systematic evaluation and management schemes are needed to help the plastic surgeon best understand how to manage this complex patient population.
Conflict of interest/funding statement None.
References 1. Pryor L-S, Lehman J-A, Workman M-C. Disorders of the female breast in the pediatric age group. Plast Reconstr Surg 2009; 124:50ee60e. 2. Sadove A-M, Van Aalst J-A. Congenital and acquired pediatric breast anomalies: a review of 20 years’ experience. Plast Reconstr Surg 2005;115:1039e50. 3. Costa S-S, Blotta R-M, Mariano M-B, et al. Laparoscopic treatment of Poland’s syndrome using the omentum flap technique. Clinics (Sao Paulo) 2010;65:401e6. 4. Derman O, Gold M-A. Poland’s syndrome and premature ovarian failure. J Pediatr Adolesc Gynecol 2004;17:389e92.
33 5. Freitas R-S, Tolazzi A-R, Martins V-D, et al. Poland’s syndrome: different clinical presentations and surgical reconstructions in 18 cases. Aesthetic Plast Surg 2007;31:140e6. 6. Garcia Jr O. Reconstruction of total absence of the breast. Ann Plast Surg 2007;58:12e7. 7. Gautum A-K, Allen R-J, LoTempio M-M, et al. Congenital breast deformity reconstruction using perforator flaps. Ann Plast Surg 2007;58:353e8. 8. Hatano A, Nagasao T, Sotome K, et al. A case of congenital unilateral amastia. J Plast Reconstr Aesthet Surg 2012;65: 671e4. 9. Klinger M, Caviggioli F, Banzatti B, et al. Ectodermal dysplasia with amastia: a case of one-step reconstruction. Case Rep Med 2009. 10. Liao H-T, Cheng M-H, Ulusal B-G, et al. Deep inferior epigastric perforator flap for successful simultaneous breast reconstruction in a Poland anomaly patient. Ann Plast Surg 2005;55: 422e6. 11. Lin K-Y, Nguyen D-B, Williams R-M. Complete breast absence revisited. Plast Reconstr Surg 2000;106:98e101. 12. Nassab R, Lahiri A, Iqbal A, et al. Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. J Plast Reconstr Aesthet Surg 2006;59:600e3. 13. Ozsoy Z, Gozu A, Ozyigit M-T, et al. Amazia with midface anomaly: case report. Aesthetic Plast Surg 2007;31:392e4. 14. Pinsolle V, Chichery A, Grolleau J-L, et al. Autologous fat injection in Poland’s syndrome. J Plast Reconstr Aesthet Surg 2008;61:784e91. 15. Spear S-L, Pelletiere C-V, Lee E-S, et al. Anterior thoracic hypoplasia: a separate entity from Poland syndrome. Plast Reconstr Surg 2004;113:69e77. 16. Van Aalst J-A, Phillips J-D, Sadove A-M. Pediatric chest wall and breast deformities. Plast Reconstr Surg 2009;124:38ee49e. 17. Araco A, Gravante G, Araco F, et al. Breast asymmetries: a brief review and our experience. Aesthetic Plast Surg 2006;30: 309e19. 18. Trier W-C. Complete breast absence: case report and review of the literature. Plast Reconstr Surg 1965;36:430e9. 19. Papadimitriou A, Karapanou O, Papadolpoulou A, et al. Congenital bilateral amazia associated with bilateral choanal atresia. Am J Med Genet A 2009;149A:1529e31. 20. Kulkarni K, Dixon J-M. Congenital abnormalities of the breast. Women Health 2012;8(1):75e88.
REVIEW
Bilateral congenital amazia: A case report and systematic review of the literature Stephanie E. Dreifuss, Zoe M. MacIsaac, Lorelei J. Grunwaldt* Department of Plastic Surgery, University of Pittsburgh, 3550 Terrace Street, 6B Scaife Hall, Pittsburgh, PA 15261, USA Received 17 April 2013; accepted 29 June 2013
KEYWORDS Congenital; Breast; Amazia; Reconstruction
Summary Background: Congenital breast anomalies present challenging management decisions to the plastic surgeon. One must consider the optimal age of reconstruction as well as the ideal surgical technique. Amazia, a very rare condition characterised by a complete lack of breast tissue in the presence of a nipple areolar complex (NAC), is one such congenital breast anomaly. Methods: A comprehensive systematic review of the literature was performed to examine the various approaches to reconstruction of congenital breast anomalies. From this review, the data compiled included patient demographics and operative details, including type of reconstruction, treatment of the contralateral breast and treatment of the NAC. A case of bilateral amazia is also reported. Results: Of 178 articles, 13 ultimately met the inclusion criteria and 54 individual patient reconstructions were identified from these papers. At the time of reconstruction, the patients were in the range of 13e54 years, with an average age of 27.6 years. Prosthetic and autologous reconstructions were equally represented (19 patients each, 35.2%; Table 2). Autologous reconstruction with prosthesis was slightly less common (15 patients, 27.8%). One patient was reconstructed using autologous lipo-augmentation only. Of the 36 cases in which the approach to the NAC was addressed, most (66.7%) were not reconstructed. Conclusions: Amazia is a very rare congenital anomaly of the breast. This systematic review of the literature highlights the need for better reporting and examination of this type of data to allow for future study and to better advise on decision making regarding the timing of reconstruction, surgical technique and the approach to the NAC. ª 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
* Corresponding author. Division of Pediatric Plastic Surgery, Children’s Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Floor 3, Pittsburgh, PA 15224, USA. Tel.: þ1 412 692 3433; fax: þ1 412 692 8614. E-mail address: [email protected] (L.J. Grunwaldt). 1748-6815/$ - see front matter ª 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.bjps.2013.06.048
28
S.E. Dreifuss et al.
As a whole, congenital breast anomalies including hypoplasia, amazia and amastia are common in the paediatric population.1,2 Despite the relative frequency with which these conditions are encountered in clinical practice, the literature is lacking in quantitative reviews of how to manage these patients. Therefore, a systematic review of the existing literature was conducted on congenital breast anomalies allowing an analysis that provides data summarising the age of reconstruction, surgical technique and management of the nipple areolar complex (NAC). Additionally, we present an unusual case of a patient who presented with congenital amazia.
Case presentation A 13-year-old female presented to the paediatric plastic surgery clinic with bilateral, congenital absence of the breasts and low-set NACs. Normal pubertal development was noted with Tanner stage V pubic hair and with onset of menses at 11 years of age. At birth, she was found to have right foot postaxial polydactyly, bilateral syndactyly of the second and third toes, left ptosis and amblyopia, frontal upsweep of the hairline and low-set, posteriorly rotated ears. Chromosome analysis, renal ultrasound and skeletal survey were all normal, and family history was unremarkable. The patient was seen by Genetics and a normal chromosomal analysis was confirmed; additionally, a syndrome was not identified. Of note, the patient complained of low self-esteem and social isolation due to the complete absence of breasts. She was diagnosed with amazia. Physical examination revealed no palpable breast tissue. The patient’s NACs were positioned on the chest at the midhumeral point, which many use as a reference point for normal nipple position. However, in this case, their position relative to other landmarks on the thorax made them appear to be sitting too far inferiorly. The NACs were sitting at the ideal position for the new inframammary fold (Figure 1). The distance from the midsternal notch to the NAC was 23 cm on the right and 22 cm on the left, and the proposed breast pocket diameter measured 11e12 cm. Other findings included an accessory nipple on the left abdomen as well as axillary fullness that felt like fatty tissue. Hormone levels were normal and a breast ultrasound revealed no hormonesensitive glandular tissue. Wrist radiographs revealed fused growth plates with a bone age of 15 years. The patient was counselled that given her young age and the fact that she was likely still growing, it would be prudent to wait to do the reconstruction. She was suffering from
Figure 1
significant psychological disturbance secondary to her deformity. Socially she was isolated and would not participate in age-appropriate activities with her peers. After seeing the patient back several times over a 1-year period, the decision was finally made to proceed with reconstruction. Surgical options were discussed. This patient wanted a small- to moderate-sized breast mound, and thus a postoperatively adjustable implant was selected for her reconstruction.
Surgical procedure The patient was taken to the operating room for placement of bilateral, subpectoral, dual-plane, postoperatively adjustable saline implants. These were placed via periareolar incisions with a lateral extension. The dissection was extended down to the pectoralis muscle in a subcutaneous plane. On the right side the subcutaneous dissection was done for a slightly greater distance superiorly prior to division of the pectoralis muscle as the NAC was sitting slightly more inferiorly on this side. The pectoralis was released bilaterally from the 3 o’clock to the 9 o’clock position and the pocket was extended superiorly such that the implant would sit in a dual plane once inflated. The final pockets measured approximately 11e12 cm in diameter. Postoperatively adjustable saline implants (Mentor Smooth Round Spectrum implants) measuring 10.8 cm in diameter were placed. The projection was 3.5 cm and the maximum fill volume between 225 and 270 ml. A remote port was placed in a lateral pocket near the midaxillary line and attached to the expander in a standard fashion. In-office expansion was initiated 2 weeks postoperatively and terminated at a fill volume of 270 cc. The patient tolerated these expansions well and her implants remained symmetrically positioned on the chest wall (Figure 2). Approximately 1 year after the placement of the implants, the patient returned for repositioning of the NACs. The patient was taken to the operating room for bilateral free nipple grafts. The donor sites were closed primarily. The grafts were secured in place with a Reston foam bolster such that the nipples were visible. The patient was admitted postoperatively and had some superficial slough of the areola and partial loss of the nipple itself. However, she did heal with an aesthetically acceptable result (Figure 3).
Systematic review A systematic review of the literature was performed using the PubMed for MEDLINE articles. Search strategies
Patient before reconstruction.
Bilateral congenital amazia
29
Figure 2
Patient after placement of implant.
included queries for “Mammaplasty” MeSH þ “Breast/abnormalities” MeSH “Breast Diseases/Congenital” MeSH; “Amazia” [Title/Abstract] and “Amastia” [Title/Abstract] for the period between 2003 and March 2012. Papers written in English, French and Spanish were considered. Titles and abstracts were screened by two different reviewers. Full articles, consisting of those with insufficient information to be excluded based on the abstract and title, were then obtained for potential studies of interest. The inclusion criteria consisted of a description of the operation and a discussion of breast reconstruction for congenital conditions including amazia, amastia and breast hypoplasia. The exclusion criteria included the lack of operative details, insufficient patient-specific information (such as mention of general surgical procedures without reference to specific patient cases), description of reconstruction for deformities other than those included and languages other than English, French or Spanish (Figure 4). Reference lists of included articles were then reviewed for potential additional articles. Data were compiled for average age and range, months of follow-up and number of patients for each paper. Operative details were included for each individual case in which the reconstruction had been completed. These details included the type of reconstruction, specific surgical approach (choice of flap, type of implant and implant placement), treatment of the contralateral breast and treatment of the NAC. The authors had no conflicts of interest or sources of support to disclose in this systematic review.
Results Of 178 citations initially identified in this systematic review, 13 articles ultimately met the inclusion criteria (Table
Figure 3
1).3e15 All included articles were identified from the PubMed literature search. Of these, a total of 54 individual patient reconstructions were identified. Patients were on average 27.6 years of age at the time of reconstruction (range of 13e54). For studies which included follow-up, 14.3 months was the average, although several studies lacked follow-up beyond the immediate postoperative period.3,5,7,13,15 Prosthetic and autologous reconstructions were equally represented (19 patients each, 35.2%; Table 2). Autologous tissue reconstruction with prosthesis was slightly less common (15 patients, 27.8%). One patient was reconstructed using autologous lipo-augmentation only. The majority of cases that detailed prosthetic reconstruction did not include information regarding the type of implant or placement. Of those that did include this information, silicone and saline prostheses were chosen at a similar frequency (eight and six patients, respectively). Most implants were placed in a submuscular, rather than subglandular, location (nine patients vs. one patient, respectively; Table 3). For prosthetic reconstruction, hypomastia was the most frequent condition being addressed (15 patients, 78.9%), while amazia and amastia were less common (three patients, 15.9% and one patient, 5.2%, respectively; Table 4). Regarding autologous reconstruction, omental flaps were the most frequently reported flaps to be implemented (11 patients, 31.4%; Table 5). Other flaps were reported with relatively similar frequencies. Few articles described the management of the NAC (Table 6). Of the 36 patients described, the majority was not altered surgically (24 patients, 66.7%). In several cases, the NAC was surgically reconstructed (seven patients, 19.4%), while for several patients, the NAC was described
Patient after final reconstruction.
30
S.E. Dreifuss et al.
Figure 4
Schematic of search strategy for systematic review.
preoperatively but not postoperatively (five patients, 13.9%). Only patients with absent NAC preoperatively or superiorly displaced NAC preoperatively underwent NAC reconstruction (five of nine patients and two of ten patients, respectively). Many patients with unilateral deformity received surgery on their contralateral breast (Table 7). Of the 50 unilateral cases, no treatment of the contralateral breast was the
Table 1 search. Paper
Overview of all cases identified in literature Number of Age at Follow-up patients Reconstruction (mos) (years)
Costa et al., 2010 11 Derman et al., 2004 1 Freitas et al., 2007 8 Garcia et al., 2007 1 Gautam et al., 2007 12 Hatano et al., 2011 1 Klinger et al., 2009 1 Liao et al., 2005 1 Lin et al., 2000 1 Nassab et al., 2005 1 Ozsoy et al., 2007 1 Pinsolle et al., 2008 7 Spear et al., 2004 8
26.8 [18e53] [15e18] 23.2 [14e36] 31 27.2 [16e43] 54 26 52 33 16 17 23.0 [13e40] 32.1 [18e40]
e 39 e 15 e 6 18 12 6 1.5 e 12 e
most common (14 patients, 28.0%), followed by implant placement (11 patients, 22%) and lastly mastopexy (seven patients, 14.0%). Overall, of those patients with unilateral deformity where a definitive statement was made regarding treatment of the contralateral, unaffected breast, more than half received surgery on their contralateral breast, in order to match the normal breast with the reconstructed breast.
Discussion Congenital amazia is defined as the absence of glandular breast tissue with a normal NAC. Related conditions include congenital athelia where only the NAC is absent, amastia where both the mammary tissue and the NAC are absent, breast hypoplasia where there is a deficiency of mammary tissue and Poland’s syndrome where the pectoralis muscle is also absent.16 Normally, breast tissue originates from an anlage of ectodermal cells along primitive, paired mammary ridges. These are present at around the sixth week of gestation and extend from the axilla to the groin. Between weeks 7 and 10 of gestation, the upper and lower regions of these milk lines undergo apoptotic atrophy, while the middle or pectoral ridges persist at the level of the fourth intercostal space. This primordial breast tissue penetrates the underlying mesenchyme between weeks 10 and 14 of gestation, and the mesenchymal tissue forms the superficial fascial system and suspensory ligaments of the breast. Finally, the
Bilateral congenital amazia
31
Table 2 Reconstruction of congenital amazia, amastia and hypomastia. Reconstruction
n of Cases (%)
All Prosthesis Autologous flap Autologous flap þ Prosthesis Fat grafting only
54 19 19 15 1
(100) (35.2) (35.2) (27.8) (1.8)
Table 4 Prosthetic reconstruction by implant type and breast condition. n of Cases (%) Breast condition (%) Amastia Amazia All Silicone Saline Unknown
19 (100) 8 6 5
1 (5.2)a 1 0 0a
Hypomastia
3 (15.9) 15 (78.9)a 1 6 1 5 1 4
a
10 of the 100 cases were not specified as either amastia or hypoplasia.
areola develops at a pectoral position along the milk line at approximately the 20th week of gestation, while the nipple appears after birth.1,16 It is hypothesised that in this particular case the patient’s breast deformity may have resulted from atrophy of the entire mammary ridge between weeks 7 and 10 of gestation. Subsequently there was no development of a breast or NAC in the normal position; the primordial breast tissue did not penetrate the underlying mesenchyme at the location of the patient’s areola that formed at 20 weeks. Her inferiorly positioned NACs may actually have been an accessory nipple or NACs along the milk line that did not properly regress. While few other cases of bilateral amazia have been reported, other authors have detailed congenital conditions that affect breast and nipple development. Poland’s syndrome has a one in 100,000 incidence, affecting males 3 times more frequently than females. The condition is most often unilateral, but may sometimes present bilaterally. The absence of the sternocostal head of the pectoralis major muscle is pathognomonic for this condition, while it may be accompanied by malformations of the ipsilateral torso and upper extremity or absence of the NAC.17 Congenital ectodermal defects are associated with amastia and affect male and female patients equally. Because it is a sex-linked trait, males present with more severe malformations. The typical patient presentation includes bilateral amastia with associated abnormalities of the skin, skin appendages (hair, eccrine glands and sebaceous glands), teeth and nails.2,11,18 Bilateral amastia has been described as an isolated finding or with other associated anomalies. Examples of these accompanying findings from reported cases include scant axillary and pubic hair, cleft or high-arched palate, absence of a finger or lobster claw deformity and others.11,18 In addition to the case described here, two cases of bilateral amazia had been reported, demonstrating the rarity of this condition.18 These two cases of amazia were
accompanied by bilateral choanal atresia and midface hypoplasia, respectively. As in our case, these patients had unremarkable family histories and no known chromosomal abnormalities.13,19 Though our systematic review made a distinction between amastia, amazia and breast hypoplasia, many of the articles used only a clinical diagnosis to verify the presence or absence of breast tissue. In order to definitively diagnose one of these conditions, complementary testing such as ultrasound or mammography should be used as a supplement to the physical exam. Thus, some of the articles featured in our systematic review might be inaccurately reporting hypoplasia or amazia. The latter underscores the important role of supplemental imaging in arriving at a correct diagnosis in patients with congenital hypoplastic breast abnormalities. As would be expected for such rare conditions, there is paucity in the literature regarding the surgical approach to reconstructing hypomastia, amazia and amastia; only 13 articles described reconstruction, including 54 individual patients. The lack of peer-reviewed articles on amazia is in sharp contrast to the number of articles on the subject of breast hypoplasia. If an unlimited-time MEDLINE search is conducted, a search for ‘amazia’ returns only four articles, while a search for ‘breast hypoplasia’ returns 5219. Among decisions pertinent to breast reconstruction in this patient population are age at reconstruction and type of reconstruction (autologous vs. prosthetic reconstruction). Timing is crucial: while breast abnormalities have less functional impact, psychological sequelae resulting from embarrassment and social isolation are important considerations in the adolescent patient.20
Table 5
Autologous reconstruction. n of Cases (%)
Table 3 position.
Prosthetic reconstruction by implant type and n of Placement Cases (%) Submuscular Subglandular Unknown
All Silicone Saline Unknown
19 (100) 9 (47.4) 8 3 6 6 5 0
1 (5.2) 1 0 0
9 (47.4) 4 0 5
All Omentum DIEP LD SGAP TRAM SIEA IGAP Lipo-augmentation Unknown
34 11 5 5 4 3 3 2 1 1
(100) (31.4) (14.3) (14.3) (11.5) (8.6) (8.6) (5.7) (2.8) (2.8)
32 Table 6
S.E. Dreifuss et al. Management of the NAC.
NAC
n of Cases (%)
All Absent Superior displacement Hypoplasia Superior Displacement þ Hypoplasia No abnormality
36 9 10 4 9 4
(100) (25.0) (27.8) (11.1) (25.0) (11.1)
The age at reconstruction from our literature search ranged from 13 to 54, possibly due in part to lack of access and education regarding reconstructive options. One patient visited a plastic surgeon at 18 years of age and was informed that there were no options; her reconstruction was not performed until 54 years of age when she again consulted a plastic surgeon.8 While it may be ideal to correct congenital breast anomalies during the late teens so as to limit the degree to which growth will impact the reconstruction, earlier reconstruction at 11e12 years should be considered given psychological concerns.16,20 Ideally, reconstruction should be performed when the patient’s peers are developing breasts as this process impacts adolescent females’ psychosocial growth and self-esteem.1 Our patient’s primary concern was low self-esteem and social isolation, leading us to reconstruct her breasts at 13 years of age. This patient was suffering psychological consequences from not having breasts. While some surgeons would elect to wait to reconstruct the breasts given the limited number of options available in a 13-year-old, here we chose to proceed with an implant-based reconstruction using a postoperatively adjustable saline implant with a remote port. In one study, the mean age of patients receiving surgery for hypoplastic breast abnormalities was 16.7 years, with patients undergoing an average of 1.5 surgeries.2 Given this patient’s young age and so as to ascertain whether the patient’s skeletal growth was complete, a wrist X-ray was obtained to look at skeletal age. It showed growth-plate fusion indicating skeletal maturity. This finding allowed for proper positioning of the reconstructed breasts on the chest wall given the very low-set NACs. Ultimately, the breast mound was positioned relative to the sternal notch and the chest width. It is important that patients and their families, in conjunction with their primary-care physician, be presented the surgical options when discussing breast
Table 7
NAC Reconstruction Yes (%)
No (%)
Unknown (%)
7 (19.4) 5 2 0 0 0
24 (66.7) 2 8 4 9 1
5 (13.9) 2 0 0 0 3
deformities, in order to allow them to make the best decision regarding reconstructive treatment. In our systemic review of breast reconstruction in the setting of amazia, we found several reports, although too few to perform an objective analysis or to guide our operative decisions. Both prosthetic and autologous options have been described with reasonable follow-up and few reported morbidities. In the hopes of determining optimal approach, it is important that these cases continue to be reported. As with other operations, the optimal reconstruction technique depends on patient-specific factors, the surgeon’s skills and patient and surgeon preferences. In the case presented here, given the patient’s age, postoperatively adjustable implants/expanders were selected in order to maintain an appropriate size for her stage of growth and development. These expanders have a size range in which they can be filled allowing the plastic surgeon to add fluid and thus increase the size of the breast as the patient grows. Also, if the patient is ultimately happy with a saline implant, the remote port can be easily removed in an outpatient procedure and the implant can function as the final reconstruction for several years. In a 13-year-old female, one could certainly entertain autologous reconstruction options. In her case, given the complete lack of breast tissue, one would have to reconstruct the breast mound with a deep inferior epigastric perforator (DIEP) flap or a transverse rectus abdominis myocutaneous (TRAM) flap. She did not have enough excess abdominal tissue to allow this. Also, doing an implant-based reconstruction does not prevent the surgeon from doing autologous reconstruction in the future. The patient wished to have a small breast mound and did not want a drastic change in her appearance. The reconstruction chosen met her current desires, although further reconstructive surgery may be needed in the future.
Management of the contralateral breast (unilateral cases only).
All Amastia Amazia Hypomastia Unknown
n Cases (%)
Reduction (%)
Implant (%)
Mastopexy (%)
None (%)
Unknown (%)
50 (100) 6 11 22 11
2 (4.0) 0 0 1 1
11 (22.0) 0 1 8 2
7 (14.0) 1 2 1 3
14 (28.0) 2 2 5 5
16 (32.0) 3 6 7 0
Bilateral congenital amazia
Conclusion This unique presentation of the management of bilateral congenital absence of the breasts accompanied by inferiorly displaced NACs merits discussion as it presents a unique challenge to the plastic surgeon. The timing of surgery, procedure selection and approach to the NAC are challenging and require consideration given the significant impact on a patient’s psychosocial development and quality of life. Discussions of this problem and related conditions in the literature are primarily limited to case reports and case series. To further add to the body of literature, a summary of the existing data was done via a systematic review of the literature. Although there are numerous publications in the literature about congenital breast anomalies, the data are rarely complete, thus making it difficult to come to a consensus about the best practice. Further studies that include larger volumes and more systematic evaluation and management schemes are needed to help the plastic surgeon best understand how to manage this complex patient population.
Conflict of interest/funding statement None.
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