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Congenital Disorders of the Breast

Overview of Congenital Breast and Chest Wall Deformities and Select Reconstructive Approaches

Marc Walker

on 17 June 2013

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Transcript of Congenital Disorders of the Breast

Size Disparity
- dissimilar volume of primordial breast cells
- differential response to hormonal stimuli

Shape Disparity
- upper quadrants --> loss of skin elasticity/tone
- lower quadrants --> cellular distribution pattern
Marc E. Walker, M.D., M.B.A.
Section of Plastic and Reconstructive Surgery
Yale University School of Medicine

Congenital Disorders
of the Breast

Nipple and
Areola Complex

- Accessory Nipple

- Nipple Inversion


Abnormal Shape
Tuberous Breast Deformity
Breast Asymmetry

- Poland's syndrome
- Anterior thoracic hypoplasia
- Pectus excavatum
- Pectus carinatum
- Pigeon chest
Congenital Abnormalities of the Breast
- Nipple and Areola Complex

- Accessory Breast

- Breast Asymmetry

- Abnormal Breast Shape

- Abnormal Chest Wall
Accessory Nipple
Nipple Inversion
Breast Asymmetry
Amazia / Amastia
"we have a little sister, and she hath no breast, what shall we do for our little sister in the day that she shall be spoken for?" - Song of Solomon 8:8
Breast Embryology
- 1-5% of general population
- 1:1 male: female
- develop along milk line
- >90% inframammary
- unilateral or bilateral
- w/wo areola
- susceptible to same diseases
- presence of supernumerary nipples
- most common pediatric breast anomaly
- can be familial, most often sporadic
- sometimes confused with nevi

- renal duplication, obstruction, agenesis,
- may demand renal work-up

- simple excision for irritation/cosmesis
- absence of the nipple-areola complex
- abnormal involution of mammary ridge
- related to deficient PTrH
- unilateral or bilateral
- autosomal dominant

- Poland's, choanal atresia-athelia, Al Awadi/Raas- Rothschild, SEN syndromes
- dermoid cysts and ectodermal dysplasia

- nipple reconstruction with tattooing
- females await maximal breast development
Kajava Classification Scheme (1915)
1. Complete SN with glandular tissue, areola, and nipple
2. SN with tissue and nipple only
3. SN with tissue and areola only
4. Ectopic breast tissue only
5. Pseudomamma with areola and nipple
6. Polythelia (supernumerary nipple only)*
7. Polythelia areolis (supernumerary areola only)
8. Polythelia pilosa (patch of hair only)
100 healthy individuals
- 91% oval-shaped
- H:V 27:20mm

A = 2.4cm + (0.9 thorax Circ.)

B = 1.2cm + (0.28 sternal L.) + (0.1 thorax Circ.)
- Sir Ashley Cooper (1840)
- 1:50 in general population
- 50% with family history

- nipple inverted at birth, elevates above skin during childhood
- tethering/shortening of breast ducts
- intrauterine development of fibrous bands

- mechanical difficulty with breast feeding

- Surgical vs. OTC
Surgical Correction of Nipple Inversion
Step 1 - Lyse foreshortened subareolar fibro-ductal tissue
Step 2 - Purse string suture at nipple base
Step 3 - Placement of two crossed mattress sutures beneath nipple
Minimally-Invasive Correction of Inverted Nipples: A Safe and Simple Technique for Reliable, Sustainable Projection
Adam R. Kolker, MD, Philip J. Torina, MD.
Mount Sinai School of Medicine, New York, NY, USA.
Concerns: Loss of sensation & inability to breastfeed
Over-the- Counter "Niplette" Device
Disease and Monitoring
- 1-2% of general population
- diagnosed at puberty
- female preponderance
- some hereditary links
- most common in axilla
- 1/3 have multiple SNs

- sign of fertility/femininity; ativism
Supernumerary Breasts
- unilateral or bilateral
- usually occur along milk-line
- failure of mammary ridge regression?
- w/wo nipple-areola
- Neugebauer reported 8 SNs (1886)
Pseudomamma on the foot: An unusual presentation of supernumerary breast tissue
Délio Marques Conde MD, PhD1, Eiji Kashimoto MD1, Renato Zocchio Torresan MD, PhD1, Marcelo Alvarenga MD, PhD2
Dermatology Online Journal: 12 (4): 7
- susceptible to same disease profile as normal breast tissue
- benign cysts and tumors
- carcinoma

Cystic lesion of a dorsal supernumerary breast in a male.
T. G. Brightmore; Proc R Soc Med. 1971 June; 64(6): 662–663.
World J Surg Oncol. 2009 Sep 28;7:70. doi: 10.1186/1477-7819-7-70.
Vulvar fibroadenoma: a common neoplasm in an uncommon site.
Cantú de Leon D, Perez Montiel D, Vázquez H, Hernández C, Cetina L, Lucio MH.
Disease and Monitoring
Case Report Med. 2012;2012:286210. doi: 10.1155/2012/286210. Epub 2012 Dec 1.
Male breast cancer originating in an accessory mammary gland in the axilla: a case report.
Yamamura J, Masuda N, Kodama Y, Yasojima H, Mizutani M, Kuriyama K, Mano M, Nakamori S, Sekimoto M.
Be concerned for adenocarcinoma!
- discomfort, restriction, lactation, poor aesthetics, malignancy risk

- surgery (simple excision, diamond-shaped, V-Y flaps)
- liposuction: define plane between axilla and accessory tissue

- up to 40% (vs 2%)
- seroma
- infection
- nerve injury
- scarring
- residual tissue
Correction of accessory axillary breast tissue without visible scar
Young Soo Kim, MD, Corresponding author contact information
Aesthetic Surgery Journal Vol 24, Iss 6, Nov–Dec 2004, pp531–5
Ann Plast Surg. 2010 May;64(5):537-40.
Evaluation of preoperative risk factors and complication rates in cosmetic breast surgery.
Hanemann MS Jr, Grotting JC.

Br J Surgery (90)10, 1213-14(2003).
Management of accessory breast tissue in the axilla.
Down S, Barr L, Baildam AD, Bundred N.
Mammae Erraticae
- rare, but many reported
- confused for lipoma
A 17-year old girl comes to the office for consultation regarding breast asymmetry. She wears a size 34B brassiere, which fits the right breast but is too large for the left breast. On examination of the left side of the chest, there is no palpable breast parenchyma; there is a visible nipple-areola complex. No abnormalities of the muscles and ribs are noted. Development of the right breast is Tanner stage 4. Which of the following is the most likely diagnosis?

A) Amastia
B) Amazia
C) Athelia
D) Pectus excavatum
E) Poland syndrome
Which of the following findings is most indicative of the disorder presented in the image below?

A) Abnormalities of the chest wall
B) Absence of the sternal head of the pectoralis major muscle
C) Absence of the nipple
D) Brachysyndactyly
E) Hypoplasia of the latissimus dorsi muscle
Accessory mammary structures are most frequently found at which of the following sites?

A) Buttock
B) Axilla
C) Neck
D) Thigh
E) Vulva
A 22-year-old woman comes to the office for consultation regarding correction of breast asymmetry. She says the problem is with the left breast; she is happy with the size and shape of the right breast. Physical examination shows narrowing of the left breast at the base. At the mid portion, the inframammary fold of the left breast is higher than that of the right breast. The left areola is enlarged. The cup size of the left breast is B, and the cup size of the right breast is C. Which of the following is the most appropriate management?

A) Mastopexy of the left breast using a Wise-pattern technique with lowering of the inframammary fold

B) Augmentation mammaplasty of the left breast with radial scoring and areola reduction

C) A pedicled TRAM flap to the left breast

D) Vertical reduction mammaplasty of the right breast
Indications and Treatment
- Expansion/implant augmentation of smaller breast
- Reduction mammoplasty of the larger breast
- NAC reduction
- Parenchymal scoring
- Supplemental lipoplasty

- "true symmetry" often requires bilateral procedures

- What the
patient wants?

- When to operate?
The Female Breast
- Important symbol of femininity
- Socio-cultural influences motivate desire surgical intervention
- Intercultural differences in breast shape preferences exist
Breast Development
- Birth - Main lactiferous ducts
- Puberty - mammary glands
- epithelium
- fibroconnective tissue
- mammary glands
- fatty deposition
- Pregnancy
- Menopause
Level I Groups
(lateral to pec minor)
- axillary vein nodes
- external mammary nodes
- scapular nodes

Level II Groups
(superficial and deep)
- central nodes
- interpectoral (Rotter's)

Level III Group
(medial to pec minor)
- subclavicular nodes
"Reconstructive surgery is performed on abnormal structures of the body, caused by congenital effects, developmental abnormalities, trauma, infection, tumors, or disease. It is generally performed to improve function, but may also be done to improve appearance.”
AMA Definition:
*Third-party payers limit reimbursement to "medical necessity"
Amazia / Amastia
- implant augmentation
- myocutaneous flaps
- supplemental lipoplasty
- few case reports
- mammary ridge disappearance
- formation failure
- autosomal dominant and sporadic

- other ectodermal defects
- cleft palate
- pectoral muscle
- upper limbs
- urologic abnormalities
Breast Asymmetry
- Rees and Aston (1976)
- "Snoopy breast"
- constricted breast
- herniated NAC
- tubular breast
- lower-pole hypoplastic breast
- incidence unclear

- unilateral or bilateral
Grolleau et al. (1999)
- anomaly of lower pole fascia superficialis
- abnormal adherence to dermis/muscular plane
- involution of mammary ridge (fewer milk ducts)
Surgical Approaches (Type I)
- LLQ distended, ptotic, with excess skin
- mammoplasty technique - superior glandular pedicle
- undermine and de-epithelialize
- triangular dermoglandular flap fills in deficiency
Surgical Approaches (Type II)
Mandrekas et al. (2003, 04, 10)
Tuberous Breast Deformity Incidence
(Grolleau et al., 1999, n=74)
Type I - 54%
Type II - 26%
Type III - 20%

Type I/I - 27%
Type I/II - 27%
Type I/III - 27%
Type II/II - 8%
Type II/III - 5.5%
Type III/III - 5.5%
- constricting ring at base of breast
- absence of superficial layer of superficial fascia
- thickening of the deep layer of superficial fascia
- two layers connect more superiorly?
- thicker/denser suspensory ligaments?

- results in vertical and horizontal deficiencies
- leads to nipple-areola complex herniation
Heimburg et al. (1996, 2000)
Surgical Indications and Approaches
(1) Mild to moderate with adequate breast volume
- parenchymal scoring or division with re-draping

(2) Mild to moderate without adequate volume
- supplemental augmentation mammoplasty

(3) Severe deformity
- staged procedures
- tissue expansion and/or skin flap for narrow base
- reconstruction of the herniated NAC
Surgical Approaches
Poland's Syndrome
- reported as early at 1826
- described by Alfred Poland (1841)

- hypoplasia of breast/nipple
- scarcity of chest subcutaneous tissue
- absence of pectoralis major (costosternal)
- absence of pectoralis minor +/- others
- aplasia/deformity costal cartilages/ribs (II-V)
- alopecia of axillary and mammary regions
- rib abnormalities
- ipsilateral upper limb deformities (50%)

- rarely familial (20 cases)
- M:F 3:1 (sporadic), 1:1 (familial)
- R > L (sporadic), R = L (familial)
- 1:7,000 - 1:1,000,000
Etiology and Associations
1) Hypoplasia of subclavian, internal thoracic, brachial artery(s)
- interrupts blood supply to embryo (week 6)
2) Disruption of lateral plate mesoderm (days 16-28)
3) Intrauterine insults
4) Smoking mothers (2:1)

Associated with renal
duplication, renal agenesis,
breast carcinoma, leukemia,
Mobius syndrome, Klippel-
Feil syndrome.
- developed by Hartrampf, 1980s
- does not consider upper extremity involvement
- helpful in directing reconstruction
Surgical Indications
- Chest wall depression
- Inadequate protection of the mediastinum
- Paradoxical chest wall movement
- Aplasia/hypoplasia of the breast
- Other cosmetic defects
J Plast Reconstr Aesthet Surg. 2007;60(5):455-64. Epub 2007 Feb 21.
The tuberous breast revisited.
Pacifico MD, Kang NV.
Surgical Intervention
- breast implants w/ NAC ---> chest wall recon with free flaps

- Mild - delay until after puberty
- Severe - cardiopulmonary compromise
- multi-staged procedures
Anterior Thoracic Hypoplasia
- rare
- posterior displacement of ribs
- anteriorly sunken chest wall
- hypoplasia of the ispilateral breast (always)
- superiorly placed NAC
- normal sternum and pectoralis major
- breast asymmetry is common
- > 30% difficult to conceal
- volume and position
- hypoplasia and aplasia
- Widening base w/ radial scoring (Rees&Aston, 1976)

- Cutaneous band incision (Dinner&Dowden, 1987)

- Constricting ring divided horizontally (Ribeiro et al. 1998, 2002)

- Constricting ring divided vertically (Mandrekas et al. 2003)

- Areola reduction, subdermal undermining, & subglandular implant placement (Pacifico&Kang, 2007) *

- Lipoaugmentation (Coleman&Saboeiro, 2007) **
Coleman and Saboeiro, 2007.

First Fat Grafting Procedure:
380 cc Right
370 cc Left

Second Proecedure (7 mos):
340 cc Right
300 cc Left

4 years 11 months after the second procedure.
- Breast is a modified apocrine gland

- Mammary ridge, or "milk line,"
(4-6 wks)
- extends from axilla to groin
- epithelial cords 15-20 buds --> 1 bud
- persists at 4th-5th intercostal space

- Ectodermal buds grow into underlying mesoderm

- Nipple and areola develop from the ectoderm
- junction of 15-20 lactiferous sinuses
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