www.elsevier.com/locate/jpedsurg

Bilaterally symmetric juvenile fibroadenomas andtubular breast deformity in a prepubescent girl

Rachael L. Moorea,*, Anil Mungaraa, Katayoon Shayanb, Anne M. Wallacea,c,1

aDepartment of Surgery, University of California, San Diego, La Jolla, CA 92093-0987bDepartment of Anatomical and Clinical Pathology, Children’s Hospital San Diego, San Diego, CAcRebecca and John Moore’s UCSD Cancer Center, San Diego, CA

0022-3468/$ – see front matter D 2007

doi:10.1016/j.jpedsurg.2007.01.067

* Corresponding author. Portland,

Wallace, MD, Rebecca and John Moo

92093. Tel.: +1 858 822 6193; fax: +1 8

E-mail addresses: rachaelmoore100@

amwallace@ucsd.edu (A.M. Wallace).1 Dr Wallace has a unique position i

in General and Plastic Surgery, spe

reconstruction. She is referred to by bot

abnormal breast disorders.

Index words:Juvenile fibroadenoma;

Tubular breast deformity;

Giant fibroadenoma

Abstract Juvenile fibroadenomas are rare and usually not associated with other disease processes. We

report the first known case of bilateral juvenile fibroadenomas in conjuction with tubular breast

deformity in a prepubescent girl.

D 2007 Elsevier Inc. All rights reserved.

Macromastia is the massive enlargement of breast tissue,

often occurring over a relatively short period [1]. In a young

girl, the most common differential of a rapidly enlarging

mammary mass includes juvenile fibroadenoma, virginal

breast hypertrophy (VBH), and cystosarcoma phyllodes

(CP) [2-4], all of which are extremely rare during

adolescence [3,5,6,11]. The etiology of these 3 entities

remains elusive but is thought to be related to an end-organ

hypersensitivity to normal, pubertal hormones [1,4]. Al-

though most large breast tumors are not malignant during

adolescence, patients can have profound psychologic and

physical impairment from breast disfigurement, making

prompt treatment warranted. In addition to pathology in

breast size, disorders exist in breast shape as well. Tubular

breast deformity is a rare entity affecting young girls,

Elsevier Inc. All rights reserved.

OR 97210. Reprints: Anne M.

re’s Cancer Center, La Jolla, CA

58 822 6194.

yahoo.com (R.L. Moore)8

n San Diego. She is board certified

cializing in breast disease and

h adult patients and children with

characterized by a deficiency of skin envelope at the base of

the breast, causing constriction and decreased growth of the

breast horizontally and vertically [7,8]. We present a case of

bilaterally symmetric juvenile fibroadenomas with tubular

breast deformity in a young girl.

1. Case

KQ was a healthy 9-year-old prepubescent girl when she

was referred to our clinic for a left breast mass. Physical

examination revealed small tubular breast formation with

herniation of tissue into the nipple-areola complex. A fine-

needle aspiration was nondiagnostic, and results from a

subsequent incisional biopsy were consistent with benign

juvenile hypertrophy. She was diagnosed with a severe form

of congenital tubular breast disorder with enlargement

during her prepubescent years. She was to be followed up

yearly, with reconstructive surgery planned in her mid-

teenage years after full breast development had occurred.

However, she represented to the clinic 9 months later with

gross tubular enlargement of both of her breasts with

complete herniation through the nipple-areola complexes

and surrounding ulceration of the tissue (Fig. 1). Her entire

Journal of Pediatric Surgery (2007) 42, 1133–1136

Fig. 1 KQ, age 9, with bilaterally symmetric massive tubular

breasts showing ulceration of the nipple-areola complex and

venous dilatation.

ig. 3 Gross specimen of one breast showing a tan encapsulated

brofatty mass.

R.L. Moore et al.1134

central breasts, including the nipple-areola complexes, were

necrosed and completely destroyed. Results from a second

incisional biopsy of the left breast again supported the

diagnosis of benign juvenile hypertrophy. She was hospi-

talized multiple times for cellulitis of her breasts. She was

seen by children’s genetics and endocrinology services who

found no coexisting abnormalities. Her past medical,

surgical, social, and family histories were noncontributory.

Fig. 2 One week postoperatively after a bilateral subtotal

mastectomy.

Ffi

Physical examination revealed bilaterally symmetric, enor-

mous, tubular breasts. The nipple-areola complexes were

grossly distorted and widened, with breakdown of the skin,

edema, and clear drainage. There was marked dilation of

skin veins. The breasts were firm, spongy, and without

palpable discrete masses. There was no discharge expressed

from the nipples. No adenopathy was noted. Bilateral

subtotal mastectomies were performed approximately 1 year

after initial presentation, sparing the 2-cm anterior breast

tissue devoid of infection (Fig. 2). Gross examination of the

right breast showed a 1040-g fibrofatty mass, which

measured 17.0 � 15.0 � 7.0 cm. That from the left side

weighed 1111 g and measured 18.5 � 16.0 � 7.5 cm

(Fig. 3). The lesions on both sides showed a solid tan

encapsulated matrix with occasional hemorrhagic nodules

and no evidence of necrosis. Microscopic examination

revealed diffuse proliferation of ducts lined by multilayered

epithelium (Fig. 4). Underlying myoepithelial cells were

Fig. 4 Pathologic examination of specimen showing diffuse

proliferation of ducts lined by a multilayered epithelium (H and

E stain, �40). Inset, No visible nuclear atypia, abnormal mitotic

activity, or pleomorphism (H and E stain, �200).

Juvenile fibroadenomas and tubular breast deformity 1135

prominent. No nuclear atypia or atypical mitotic activity

was noted. The surrounding stroma was remarkable for

moderate to high cellularity, consisting of uniform spindled

cells with lack of increased mitotic activity. Both parts were

diagnosed as juvenile fibroadenoma.

2. Discussion

Historically, the naming of giant breast tumors has

been confusing. First described in 1838 by Muller as

cystosarcoma phyllodes, the term encompassed what we

now recognize as giant fibroadenomas and benign CP [9].

There is no consensus on the definition of giant fibroade-

nomas. Some authors describe them as having a diameter of

greater than 5 cm or weighing more than 500 g, whereas

others define them as occupying most of the breast [3,9].

The term juvenile fibroadenoma is often interchanged with

giant fibroadenoma but is differentiated on the basis of

histology [10,11]. Giant fibroadenomas are rare, have a

racial predilection for black people [2,10], and most

commonly occur unilaterally although can be seen bilater-

ally and in multiples [3,6].

The most common differential diagnoses of juvenile

fibroadenomas include VBH and CP [2-4], both of which

are extremely rare. Juvenile fibroadenomas comprise

approximately 7% of fibroadenomas [2]. Kuusk [6], in his

review of the literature, reported only 50 documented cases

of giant fibroadenoma and less than 10 cases of multiple

giant fibroadenomas during adolescence. Kupfer et al [5]

reported only 70 documented cases of VBH in 1991. Each

of these can present as a painless, rapidly enlarging breast

mass in otherwise healthy adolescent girls [2,5,9] with only

subtle clinical differences. Whereas juvenile fibroadenomas

and CP usually occur unilaterally, VBH is almost always

bilateral [2,3,11]. In addition, unlike most VBHs, typical

juvenile fibroadenomas usually have prominent skin veins

and consist of discrete masses. There exist no defining

genetic, endocrine, or other medical associations, but there

is one documented case of familial VBH [5].

Microscopically, juvenile fibroadenomas have very dense

and cellular stromal and ductal elements and are often

indistinguishable from VBH [4,5]. However, whereas

fibroadenomas are usually firm and encapsulated, distinct

from normal breast tissue, VBH is diffuse, with virtually

no separation between normal and affected breast tissue.

Cystosarcoma phyllodes is distinguished by increased

stromal cellularity, pleomorphism, and epithelial hyperpla-

sia, with epithelial hyperplasia being key to differentiating it

from other breast disorders [12].

The etiology of these massive tumors remains unclear,

but most hypotheses point to a hormonal basis. Earlier

views held that hyperestrogenism led to rapidly enlarging

breast masses in young girls [13], whereas others felt that

the hypertrophic breast may have a unique ability to

concentrate estrogen [4]. Most cases in the literature have

documented entirely normal endocrine workups in these

patients [1]. Currently, the most widely accepted view is that

of an end-organ hypersensitivity of breast tissue to normal,

pubertal hormone levels [1,4]. Whereas the response is more

localized in juvenile fibroadenomas and CP, it is more

diffuse in VBH.

Although juvenile fibroadenomas usually occur as an

isolated disease process, our patient notably had both

juvenile fibroadenomas and a tubular breast deformity.

Tubular breasts are rare, have an uncertain etiology, and are

without associated medical or genetic conditions [8]. The

defect lies primarily in a deficiency of the skin envelope at

the base of the breast, causing constriction and abnormal

breast growth horizontally and vertically, occurring in 1 or

both breasts [7,8]. The area beneath the areola has only

a single layer of fascia, and because the breast cannot

expand properly, the breast parenchyma can herniate into

the nipple-areola complex. The defect, occurring in isola-

tion, is often accompanied by ptosis and hypoplasia of the

breast tissue [7].

Most giant tumors of the breast do not spontaneously

regress, necessitating the need for treatment. The treatment

of giant fibroadenomas is aimed at excision of the tumor

with preservation of normal breast tissue, such as with

local excision or reduction mammoplasty [4,9]. However,

although a low rate of recurrence is observed for breasts

with a single giant fibroadenoma, those patients with

multiple giant fibroadenomas often experience recurrences

[3]. In these cases, a mastectomy may be a viable treatment

option to prevent further growth of new tumors. Similarly,

recurrence rates are high after reduction mammoplasty in

patients with VBH if during the period of end-organ

hypersensitivity [4,5]. In an effort to curb the growth

of the breast tissue in VBH, some antiestrogen hormones

have been used in combination with reduction mammo-

plasties [14] or as a sole treatment option [15] with

varying results. The treatment of CP varies from wide local

excision to total mastectomy based on the extent of the

disease [16].

It is clear in the literature that there is no gold-standard

therapy, and each patient should be considered individually.

In our patient, her tubular breast deformity conferred a

unique challenge. The surgical management of tubular

breast deformity without macromastia is often complicated,

with techniques ranging from tissue expansion to incorpo-

ration of a submammary flap to correct the constriction

defect at the base of the breast [7,8]. These procedures are

often associated with breast augmentation, reduction of

hypertrophic areola, and/or mastopexy for correction of

ptosis. Three factors contributed to our decision to perform a

subtotal mastectomy (vs reduction or excision). First, the

overlying skin was cellulitic to up to 2 cm of the anterior

chest wall with complete destruction of the nipple-areola

complex, minimizing the success of a skin-sparing opera-

tion. Second, the sheer size of the encapsulated masses,

once removed, left very little normal breast tissue; and third,

R.L. Moore et al.1136

her tubular breast deformity would have resulted in an

abnormal breast appearance, necessitating reconstructive

surgery even in the absence of a mastectomy.

Her planned breast reconstruction will occur after

puberty for several reasons. Her reconstruction will likely

involve tissue expanders followed by implants. Expanders

can interfere with the development of pectoral muscles;

therefore, it is important to place these after puberty. In

addition, the patient had a small amount of normal breast

tissue left, which may change during puberty and needs to

be taken into account during a reconstruction. Finally,

placing implants in a 10-year-old girl would necessitate

giving her either adult-size implants as a child or multiple

sets of implants/operations to reflect bnormalQ breast sizesduring development.

3. Summary

Juvenile fibroadenomas and tubular breast deformity are

rare in young girls, and there have been no reported cases of

both seen simultaneously in a patient. Juvenile fibroadeno-

mas should be differentiated from VBH and CP, which share

a similar clinical presentation and etiology. We have

described a case of bilaterally symmetric juvenile fibroade-

nomas in conjuction with tubular breast deformity in a

young, prepubescent girl. Treatment of juvenile fibroade-

nomas is intended to excise the lesion while preserving any

remaining normal breast tissue if possible. Therapy for

tubular breast deformity is more complicated, often involv-

ing tissue expansion and incorporation of a submammary

flap to correct the constriction defect. Macromastia com-

bined with the breast base constriction defect led to gross

breast deformity, unremitting growth, and impaired social

well-being in our patient. Our approach to this problem was

to perform bilateral subtotal mastectomies with reconstruc-

tion planned after puberty.

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