You are in: eMedicine Specialties > Pediatrics: Surgery > General Surgery Disorders of the BreastArticle Last Updated: Jan 24, 2008AUTHOR AND EDITOR INFORMATIONSection 1 of 10
 
Author: Marjorie J Arca, MD, Assistant Professor of Surgery, Division of Pediatric Surgery, Co-director of Surgical Critical Care, Medical College of Wisconsin; Consulting Surgeon, Surgical Director of Critical Care, Department of Surgery, Children's Hospital of Wisconsin Marjorie J Arca is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Medical Association, Association of Women Surgeons, International Pediatric Endosurgery Group, Phi Beta Kappa, Society for Surgery of the Alimentary Tract, Society of American Gastrointestinal and Endoscopic Surgeons, Society of Critical Care Medicine, and Society of Laparoendoscopic Surgeons Coauthor(s): Denise B Klinkner, MD, Surgical Research Fellow, Department of Pediatric Surgery, Children's Hospital of Wisconsin Editors: Aviva L Katz, MD, Assistant Professor of Surgery, University of Pittsburgh School of Medicine; Consulting Staff, Division of General and Thoracic Surgery, Children's Hospital of Pittsburgh; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; Gail E Besner, MD, Professor of Surgery and Pediatrics, Department of Surgery, Ohio State University College of Medicine and Public Health; Director, Pediatric Surgical Research, Department of Surgery, Children's Hospital; H Biemann Othersen Jr, MD, Professor of Surgery and Pediatrics, Emeritus Head, Division of Pediatric Surgery, Medical University of South Carolina; Harsh Grewal, MD, FACS, FAAP, Professor of Surgery and Pediatrics, Temple University School of Medicine; Chief, Section of Pediatric Surgery, Temple University Children's Medical Center Author and Editor Disclosure Synonyms and related keywords: athelia, absence of nipples, absent nipples, amastia, absence of breast tissue, absent breast tissue, extra breast, polymastia, extra nipple, third nipple, supernumerary nipples, polythelia, witch's milk, mastitis neonatorum, benign premature thelarche, precocious puberty, breast asymmetry, fibroadenoma, juvenile fibroadenoma, giant fibroadenoma, cystosarcoma phyllodes, gynecomastia, malignant breast disease, breast disorders, disorders of the breast, Poland syndrome, Staphylococcus aureus, hypothalamic hamartomas, McCune-Albright syndrome, breast cancer, cancer of the breast, mammary duct ectasia, Klinefelter syndrome, testicular feminization, hormone-secreting tumors, hyperthyroidism, hypothyroidism, cirrhosis, carcinoma, rhabdomyosarcoma, Hodgkin disease, Li-Fraumeni syndrome, Cowden syndrome, Ataxia-telangiectasia syndrome EMBRYOLOGY AND BREAST DEVELOPMENTSection 2 of 10
 
Embryology During the sixth week of development, the mammary glands first develop as solid downgrowths of the epidermis that extend into the mesenchyme from the axilla to the inguinal regions. Later, these ridges (ie, milk lines) disappear, except in the pectoral area. The nipple forms during the perinatal period with the proliferation of the mesenchyme underlying the areola. At birth, the nipples are poorly formed and are often depressed. Soon after birth, the nipples are raised from the shallow mammary pits by proliferation of the surrounding connective tissue. Breast development Budding of the breasts, or thelarche, usually occurs at approximately age 10-11 years in females. This developmental change, along with adrenarche (ie, appearance of dark hair over the mons veneris), signifies entry into Tanner stage II of development. From this stage, complete maturation to Tanner stage V usually takes more than 4 years. Breast maturation can be as short as 18 months or as long as 9 years. The most common abnormality seen in a primary caregiver’s office in children younger than 12 years is a unilateral breast mass corresponding to asymmetric breast development.1 One breast commonly develops earlier than the other. Ultimately, the breasts are symmetric, despite the discrepancy in the initial development. CONGENITAL ANOMALIES OF THE BREASTSection 3 of 10
Athelia (ie, absence of nipples) and amastia (ie, absence of breast tissue) may occur bilaterally or unilaterally. This is a rare condition and results when the mammary ridges fail to develop or completely disappear. Athelia or amastia is sometimes associated with Poland syndrome (ie, absent chest wall muscles, absence of ribs 2-5, deformities of hands or vertebrae). Amastia in girls can be treated with augmentation mammoplasty. An extra breast (ie, polymastia) or extra nipple (ie, polythelia) occurs in approximately 1% of the population. It may be an inheritable condition.2 Supernumerary nipples are slightly more common in males than in females. Extra breasts or nipples most commonly occur along the milk line, usually just underneath the normally located breasts or nipples; however, they have also been noted in ectopic sites such as the back or the buttock. Accessory or ectopic breast tissue responds to hormonal stimulation and may cause discomfort during menstrual cycles. These accessory tissues have also been reported to undergo malignant transformation and should be removed.3 BREAST DISORDERS IN PREPUBERTAL CHILDRENSection 4 of 10
Influx of maternal hormones through the placenta into the fetal circulation often causes the newborn's breasts to be enlarged. In addition, some secretion (ie, witch's milk) may be evident. These changes disappear with time. Mastitis neonatorum or infections of the breast tissue may also occur during the newborn period. Treatment includes antibiotics. If an abscess occurs, needle aspiration should be performed. Surgical drainage should only be considered when needle aspiration is unsuccessful because an operation may damage the breast bud and result in reduction of adult breast size. Prepubertal girls may develop breast abscesses. The abscess manifests as a tender and erythematous mass. The most common organism causing breast abscesses in this population is Staphylococcus aureus. Recently, an increasing number of skin and soft tissue abscesses caused by community-acquired methicillin-resistant Staphylococcus aureus (MRSA) have occurred in children. Treatment involves antibiotics, needle aspiration, or surgical drainage. The decision for surgical drainage should be carefully made because future breast deformation may occur. The literature suggests that drainage alone, without adjunctive antibiotics, may be effective in skin and soft tissue abscesses caused by MRSA; no definitive antibiotic recommendation regarding MRSA breast abscesses in particular is recognized.4 Benign premature thelarche is defined as isolated breast development in females aged 6 months to 9 years. Physical examination for this entity should carefully seek out other signs of puberty, such as development of pubic hair, thickening of the vaginal mucosa, or accelerated bone growth. If no other signs of puberty are present, reassure the patient and family that this is a benign finding. Examine the child every 6-12 months. If other signs of puberty are evident, precocious puberty should be entertained as a diagnosis. Early onset of puberty is more common in girls than in boys and is predominantly mediated by premature activation of the hypothalamic-pituitary-gonadal axis. Central precocious puberty may be caused by hypothalamic hamartomas, trauma, and CNS lesions; however, it is most commonly idiopathic. Treatment involves continuous administration of exogenous gonadotropins. Peripheral precocious puberty is due to sex steroid secretion independent of gonadotropin release; causes include McCune-Albright syndrome. When suspecting precocious puberty, tests for luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyroid-stimulating hormone (TSH), thyroxine (T4), testosterone, and estradiol should be performed. BREAST DISORDERS IN ADOLESCENT GIRLSSection 5 of 10
Breast asymmetry may develop as thelarche ensues. In this condition, one breast may develop before or more rapidly than the other. The physical examination findings usually include homogenous enlargement of one breast with no discrete masses or discharge. Accompanying breast tenderness may be present if the breast bud is starting to develop. If a mass is excluded either by physical examination or ultrasonography, the patient and parents can be reassured that the asymmetry will become less noticeable with age. Body piercings in general have become more common. Some studies have reported nipple piercings that caused local infection and disfiguration. Staphylococcus and Streptococcus species are the common causative organisms, but 3 cases have reported Mycobacterium infection.5 Treatment includes appropriate antibiotics and removal of the foreign body.6 Breast abscesses may occur in adolescent women, particularly if they are lactating. These are managed with antibiotics, drainage using ultrasonography or drainage in the operating room, or both. Ultrasonography-guided drainage for abscesses has been reported with good success for this disease.7, 8 Mastitis in nonlactating adolescents may occur.9 S aureus is the usual cause in cases that require drainage; however, most patients respond to oral antibiotics without additional intervention. Breast masses in adolescent girls are usually benign. The most common discrete breast mass is a fibroadenoma (70%). Upon examination, these masses are smooth, mobile, and round. They may occasionally become larger just before the patient's menstrual period. Masses with the characteristics of fibroadenoma may be serially monitored (every 1-3 mo) with a careful physical examination. Alternatively, an excisional biopsy may be performed if the patient and family request it. As many as 15% of patients may have multiple fibroadenomas. Juvenile, or giant, fibroadenomas are unusually large (>5 cm). They usually display rapid growth but are usually benign. Management consists of surgery. Histologically, juvenile fibroadenomas have more cellularity than typical fibroadenomas (see Media files 3-5). They should be differentiated from cystosarcoma phyllodes. Cystosarcoma phyllodes tumors manifest as a painless breast mass.10 Patients may have a history of sudden enlargement of a previously stable mass. The mass may be dramatically large; thinning of overlying skin and increased vascularity of the area may be present. Ultrasonography cannot usually be used to distinguish between a fibroadenoma and a phyllodes tumor. The differentiation between a fibroadenoma and cystosarcoma phyllodes lies in histologic examination. Phyllodes tumors have a more cellular stroma with nuclear atypia and mitotic figures. As many as 25% of phyllodes tumors are considered malignant. The management for a benign or malignant phyllodes tumor is wide excision with a margin of normal breast tissue. Malignant phyllodes tumors rarely metastasize to the axilla. Axillary dissections are indicated for patients with palpable lymph nodes. Trauma to the breast, iatrogenic or blunt, may result in a palpable mass. The trauma causes fat necrosis, or breakdown of the adipose tissue. To complicate the diagnosis, women may or may not recall the inciting event. In addition, women may examine a traumatized breast and discover a mass that was present prior to the event. Upon physical examination, the mass is sometimes indistinguishable from a cancer. Ultrasonography, mammography, and even MRI of the breast may not be able to discern the difference, leading to biopsies in concerning masses. Although pathognomonic for fat necrosis, key features—including peripheral calcifications, fibrotic scar, and echogenic internal bands—may also be consistent with breast cancer.11 Findings of lipid cysts or ultrasonographic evidence of fat necrosis may assist in the decision to monitor a palpable abnormality or perform a biopsy.12 Fibrocystic changes of the breast are very common in the adolescent population. Physical examination findings may reveal discrete breast cysts or diffuse small lumps throughout. Breast tenderness and heaviness may be experienced by the patient, especially before her menstrual period. The patient is advised to avoid caffeine. Evening primrose oil (1 tablespoon at bedtime) may be used to alleviate breast pain associated with fibrocystic changes of the breast.13 A single dominant lump that is present for several months likely requires excisional biopsy. Single dominant cysts may be aspirated in an outpatient setting. Cytopathologic examination should be conducted if the fluid is bloody. Fibrocystic changes are histologically classified into 3 categories: nonproliferative changes, proliferative changes without atypia, and proliferative changes with atypia. Patients with proliferative changes and/or atypia have a higher risk for future malignancies. Although no specific data are available in adolescents, the risks in adults are well-described. Proliferative fibrocystic disease (described histologically as moderate or florid hyperplasia, sclerosing adenosis, or papilloma with a fibrovascular core) has been associated with a 1.5- to 2-fold increased risk of developing breast cancer. The most substantial increase in risk of breast cancer is observed in patients with atypical or lobular hyperplasia; this is associated with a 4.4-fold increase in cancer risk, which increases to 9-fold with a positive family history.14 Screening guidelines for patients with a history of atypia on breast biopsy findings are still evolving. In adults, current recommendations include yearly physician examinations and yearly mammography.15 Patients should be aware of the limitations and should be taught how to perform self–breast examinations. No data indicate that the additive radiation from mammography increases the risk of breast cancer. These Mammary duct ectasia is a benign lesion of the breast that consists of dilation of the mammary ducts, periductal fibrosis, and inflammation. This entity has been described in infants, prepubertal boys and girls, and adult men and women. The patient presents with nipple discharge, which may be bloody. In children and adolescents, the lesion is usually unilateral. Infectious and inflammatory causes have been implicated in the etiology of this finding. Ultrasonography findings are usually suggestive, revealing dilated mammary ducts radially located around the nipple. The process is usually self-limited; therefore, surgery is not recommended if the diagnosis is certain.16 BENIGN BREAST CONDITIONS IN MALESSection 6 of 10
Gynecomastia is a benign and usually self-limited condition that occurs in 50-60% of boys during early adolescence. Physical examination findings vary from discrete, 1- to 3-cm, round, mobile, and usually tender masses located just underneath the areola to diffusely enlarged breasts. If the mass is large or fixed or if a discharge is present, further workup is necessary. The differential diagnosis for gynecomastia includes Klinefelter syndrome, testicular feminization, hormone-secreting tumors, hyperthyroidism, hypothyroidism, cirrhosis, drug use (eg, cimetidine, marijuana), familial predisposition, and obesity. Young men with gynecomastia may often be monitored in the clinic and may be reassured that the condition is self-limited. If the breast enlargement is such that it causes pain, discomfort, or psychological trauma, subcutaneous mastectomies may be performed. MALIGNANT BREAST DISEASE IN CHILDREN AND ADOLESCENTSSection 7 of 10
Malignant breast disease is uncommon in children and in adolescents. Risk factors for breast malignancies include history of familial breast cancer, previous benign disease associated with malignancy (ie, fibrocystic changes with atypia), other malignancies, or irradiation to the neck and chest areas. The most common malignant mass in the breast of a child or adolescent is a metastatic lesion. The average American female has an 11% lifetime risk of developing breast cancer. The risk in a first-degree relative (ie, mother, sister, daughter) of a breast cancer patient is 2- to 3-fold greater.21, 22 This risk is increased to 9-fold when the patient has bilateral premenopausal breast cancer. Only 5% of all breast cancer patients have true hereditary breast cancer. Families with hereditary breast cancer have the following characteristics: early onset of breast cancer (usually before age 45 y), increased incidence of bilateral breast cancer, autosomal dominant inheritance for breast cancer, and greater frequency of multiple primary cancers. Hence, adolescents of a parent with hereditary breast cancer have a 50% chance of inheriting the causative gene. Current recommendations suggest that mature young women consider genetic testing for the purposes of family and life planning.23 However, because few proven early interventions are available, genetic testing may be delayed until childbearing is complete or until age 35 years or older. Other groups are known to have an increased susceptibility to breast cancer. Families with Li-Fraumeni syndrome have p53 mutations, which are associated with an increased risk for sarcomas, breast cancer, lung cancer, laryngeal cancer, leukemia, and adrenal cortical carcinoma.26 The pattern of transmission is autosomal dominant. Breast cancer develops in 77% of women with Li-Fraumeni syndrome at age 22-45 years; 25% developing bilateral disease. Rarely, tumors may develop in the teenaged patient. Cowden disease is characterized by multiple benign keratoses located at the mucocutaneous sites on the face, hands, feet, and forearms; goiter; lipomas; and uterine leiomyomas. Infiltrating ductal carcinoma of the breast may develop in 30% of these women; one third of these cases are bilateral.27 Ataxia-telangiectasia syndrome is characterized by multiple telangiectasias, immune dysfunction, sensitivity to ionizing radiation due to chromosomal fragility, and progressive neuromuscular deterioration. Heterozygotic individuals have a 5-fold greater risk of developing breast cancer. Mutations of genes associated with inherited forms of colon cancer (ie, MSH2, MLH1) are associated with multiple skin malignancies, GI malignancies, and breast cancer.28 Exposure to ionizing radiation has been shown to increase breast cancer risk. The patient's age during exposure is correlated to the risk; the highest risk is posed to the adolescent, whereas exposure in those older than 40 years only minimally increases the risk. Also, the latency period is long. Recommendations for screening for families with hereditary breast cancer (ie, BRCA1, BRCA2, Li-Fraumeni) include examination by a physician twice a year. Screening mammography should be performed once or twice yearly beginning when the patient is aged 10 years younger than the youngest affected relative or no older than age 35 years. Patients who have positive test findings for the BRCA1 or BRCA2 genes may opt to undergo prophylactic bilateral mastectomies, which is associated with an approximately 90% reduction in the risk of breast cancer.29 Depending on the age at diagnosis in the first-degree relative, prophylactic mastectomies may be delayed until age 35 years or until childbearing is complete.23 Women aged 25 years and older who were exposed to ionizing radiation before age 30 years (eg, mantle irradiation for Hodgkin disease,30 thymic irradiation for enlargement, radiation for mastitis, radiation exposure from nuclear fall-out) should be examined by a physician twice a year and should undergo annual mammography and MRI beginning 8 years after radiation exposure.31, 15 The lag of 8 years is because of the long latency period of radiation damage to tissue. Because mammography has limited use in evaluating dense breast tissue, only twice-yearly physician examinations are recommended in patients younger than 25 years.32, 33 DIAGNOSTIC MODALITIES IN CHILDREN AND ADOLESCENTSSection 8 of 10
When treating a patient who presents with a breast mass, ask about a family history of breast and ovarian malignancies, a family history of BRCA1 or BRCA2 mutations, a previous history of malignancy, previous chest irradiation, a history of trauma, and a history of other breast masses. Perform a complete and thorough examination of both breasts to evaluate for masses and nipple discharge. Characterize breast masses according to size, contour (ie, smooth vs irregular), overlying skin changes (eg, dimpling, edema), and fixation. Examine the lymphatic basins of the breast (ie, axillary, infraclavicular, supraclavicular areas) for enlarged lymph nodes. Adolescents who carry BRCA1 or BRCA2 gene mutations should begin routine office visits at age 20 years for clinical breast examination and to receive information regarding their risk of developing breast cancer.15 Because of the denseness of the breast tissue in young children, mammography is not usually very helpful.34 Ultrasonography is more effective at delineating masses within the immature breast.35 Color Doppler ultrasonography may increase the specificity of the diagnosis; cysts are avascular, fibroadenomas are hypovascular, and abscesses show increased peripheral flow.36 Recent data suggest ultrasound findings alone may guide management in most cystic and solid-cystic lesions.37 Fine-needle aspiration may be performed to manage breast cysts; ultrasonography should be performed often to ensure that normal breast tissue is not harmed. MRI with gadolinium-based enhancement has drawn interest as a modality to study breast disease.38 However, findings have been inconsistent. For example, age and menstrual cycle may affect the parenchymal contrast medium enhancement.39 In women with a high risk of breast cancer, breast MRI does have a high sensitivity (88%) but only moderate specificity (67%).40 In very young and preadolescent children, a biopsy should be considered with extreme caution because the developing breast bud may be irreparably harmed, even with a needle aspirate. Discrete masses should almost always be removed in boys and postpubertal girls. Excisional biopsies are usually performed using a circumareolar incision; if the mass is distant from the areola, an incision directly overlying the mass may be performed. For excellent patient education resources, see eMedicine's patient education articles Breast Lumps and Pain and Breast Self-Exam. MULTIMEDIASection 9 of 10
REFERENCESSection 10 of 10
Disorders of the Breast excerpt Article Last Updated: Jan 24, 2008 | |||||||||||||||||||||||||||||||||||
