Dermatology Online Journal
Supernumerary nipple and seminoma: Case report and review of polythelia and genitourinary cancers
- Author(s): Grimshaw, Emily C
- Cohen, Philip R
- et al.
Supernumerary nipple and seminoma: Case report and review of polythelia and genitourinary cancersUniversity of Texas Medical School at Houston, Houston, Texas
Emily C Grimshaw BS, Philip R Cohen MD
Dermatology Online Journal 19 (1): 4
The presence of supernumerary nipples, known as polythelia, is the most common presentation of accessory breast tissue. It is usually considered to be a benign congenital anomaly. However, polythelia may warrant attention for more than mere cosmetic concern because supernumerary nipples have been shown to be associated with an increased risk of genitourinary malignancies. We describe a 53-year-old man with an accessory nipple on the left chest who presented with stage IIA testicular seminoma at the age of 47. Published reports of patients with polythelia and genitourinary malignancies, as well as other neoplasms, are reviewed. Because patients with accessory nipples have a predisposition to develop visceral cancers, polythelia should be considered as a genodermatosis with malignant potential.
Accessory nipples are often considered a benign congenital anomaly . They may bother the patient for cosmetic concerns, pain and swelling during menstruation, or milk secretion . However, polythelia warrants attention from the physician for more critical issues. Supernumerary nipples serve as a potential important marker for malformations and malignancies. Because there have been familial cases of polythelia reported and because accessory nipples have been associated with certain cancers, supernumerary nipples have been proposed as a genodermatosis with malignant potential .
A 47-year-old man initially presented with left testicular swelling and was treated with oral antibiotics for a presumed infection. An ultrasound later revealed a possible mass. A left radical orchiectomy was performed one month later and biopsy confirmed a classic type testicular seminoma, 8 cm in dimension, with lymphovascular invasion. The tumor was limited within the tunica albuginea and did not directly involve the epididymis or spermatic cord. A lymph node found at the spermatic cord resection margin was focally positive on immunostain for placental alkaline phosphatase (PLAP) and Oct ¾ antibody and negative for CD 30, CD 117, and cytokeratin. Four months after the initial diagnosis the patient completed chemotherapy, which consisted of two cycles of bleomycin, etoposide, and cisplatin and one cycle of etoposide and cisplatin.
Five years later, the patient presented to the dermatology clinic for evaluation of a skin eruption. On physical exam, he was found to have a single, well-demarcated reddish brown papule below the left breast along the milk line (Figure 1). Closer examination with dermoscopy revealed the lesion to be a supernumerary nipple with typical central elevation and a surrounding areola (Figure 2). He had no complaints of pruritus or pain from the lesion, which had been present since birth, and noted no change in the appearance of it. Additional history revealed polythelia in the patient’s mother. Her accessory nipple was also on the left side below the breast. Family history was negative for cancer.
Supernumerary breast tissue results when any cells from the embryonic mammary ridge fail to regress. The eight categories of supernumerary breast tissue according to Kajava’s 1915 classification are as follows: 1. complete breast with nipple, areola, and gland tissue (polymastia); 2. gland tissue and nipple without areola; 3. areola and gland tissue without nipple; 4. gland tissue only; 5. nipple and areola with fat replacing gland tissue (pseudomamma); 6. nipple only (polythelia); 7. areola only (polythelia areolaris); 8. patch of hair only (polythelia pilosa) . The most common anomaly of breast development is polythelia.
Polythelia is more common in males than females and is more often found in blacks than whites . These congenital skin-colored or slightly pigmented lesions typically occur along the primitive mammary ridge anywhere from the axilla to the groin . Whereas they usually occur sporadically, familial cases have been reported [6, 7, 8]. Such cases are inherited in an autosomal dominant fashion with variable penetrance , although X-linked dominant transmission has also been reported . The overall prevalence of polythelia in the general population averages between 0.22 to 5.6 percent, depending on factors such as inheritance and ethnicity .
Whereas supernumerary nipples are often clinically obvious, occasionally when just a nipple or nipple and areola are present, they are biopsied to establish a diagnosis. Supernumerary nipples may also clinically be mistaken for fibromas, lipomas, warts and nevi . However, one may easily differentiate them histologically because they have many, if not all, of the same characteristics found in breast tissue, including smooth muscle, epidermal thickening, mammary glands, hyperpigmentation, and pilosebaceous follicles .
Uncommonly, cancer can be found in the supernumerary breast. This tissue may undergo malignant transformation and follow the course of a primary breast tumor, just as normal breast tissue does. Indeed, individuals who have developed neoplasms in the ectopic breast tissue have been reported .
Seminoma, similar to our patient’s tumor, has been described in two other individuals (Table 1). The association between polythelia and testicular tumors was initially suggested by Goedert et al in a study of 73 men with testicular cancer. They found that eight (11%) of the patients had a supernumerary nipple and that the lesion was independent of tumor side or histologic type. They estimated the risk of testicular cancer in men with polythelia to be 4.5 times greater than men without an accessory nipple . Subsequently, additional investigators also observed this finding of increased risk of testicular cancer in men with accessory nipples [5, 16].
Researchers have also suggested that there is an increased incidence of renal, urinary bladder, and prostate cancers in patients with polythelia (Table 2). In a study of patients with accessory nipples and renal adenocarcinoma, the average age of cancer diagnosis in a patient with polythelia was 42 years, 12 years younger than the average age of those without accessory nipples. This younger age of neoplasm onset in patients with accessory nipples is consistent with earlier onset of cancers in patients with other hereditary neoplasms .
Visceral malignancies have also been observed in patients with supernumerary nipples. Therefore, several investigators have suggested associations between supernumerary nipples and cancers beyond those of the genitourinary system (Table 3). Whether there is a valid association or merely a coincidental relationship remains to be determined.
Supernumerary nipples are found in increased frequency in patients with arthrogryposis multiplex congenital , Char syndrome , fetal alcohol syndrome , Fleischer’s syndrome, neurofibromatosis type 1, partial chromosome 3p trisomy, Simpson-Galabi-Behmel syndrome, trisomy 8, and Turner’s syndrome . Other anomalies associated with polythelia include cardiac conduction abnormalities, congenital heart disease, epilepsy, and pyloric stenosis .
The possible association between polythelia and genitourinary tract anomalies remains undecided. Many studies show no obvious link between genitourinary abnormalities and accessory nipples [26, 27]. However, other studies have demonstrated a higher incidence of renal anomalies in patients with supernumerary nipples, the prevalence of which was about three times greater than expected . One study found kidney and urinary tract anomalies in 11 of 146 (7.53%) patients with polythelia, a significantly greater frequency than those without polythelia (0.68%) . Because of this possibly increased incidence of genitourinary malformations, it has been suggested that persons with polythelia undergo further investigation including a detailed family history as well as physical evaluation and surveillance for associated renal and non-renal malformations and malignancies [1, 29].
Additional investigations have suggested the existence of a supernumerary nipple/renal field defect, first hypothesized by Hersh et al . Moreover, Urbani and Betti noted ipsilaterality of the renal anomalies and supernumerary nipple in a patient with renal adenocarcinoma, further supporting an embryonal origin of the malignancy . It is not particularly surprising that the urogenital system develops around the third month of gestation, which is the time that the mammary ridge is supposed to regress; the lack of regression results in ectopic breast tissue .
Supernumerary nipples can occur sporadically or in a familial manner. They are associated with benign anomalies and congenital syndromes as well as certain malignant neoplasms. An association between polythelia and genitourinary cancers has been established. The most frequently observed site of malignancy is kidney, followed by testicle, urinary bladder, and prostate, respectively. Although other cancers have been observed in patients with polythelia, their association may be coincidental.
References1. Cohen PR: Reply to the significance of familial polythelia [letter]. J Am Acad Dermatol 1995;32:688-688.
2. Pellegrini JR, Wagner RF Jr: Polythelia and associated conditions. Am Fam Physician 1983;28(3):129-132. [PubMed]
3. Leung AKC, Robson WLM: Polythelia. Int J Dermatol 1989;28:429-433. [PubMed]
4. Kokavec R, Macuch J, Fedeles J, Ondrias F: Polythelia is not a mere aesthetic issue. Acta Chirurgiae Plasticae 2002;44:3-6. [PubMed]
5. Cohen PR: Polythelia and testicular cancer: case report of a man with embryonal cell carcinoma of the left testis and bilateral supernumerary nipple. The Cancer Bulletin 1995;47(1):86-88.
6. Toumbis-Ioannou E, Cohen PR: Familial polythelia. J Am Acad Dermatol 1994;30:667-668. [PubMed]
7. Galli-Tsinopoulou A, Krohn C, Schmidt H: Familial polythelia over three generations with polymastia in the youngest girl. Eur J Pediatr 2001;160:375-377. [PubMed]
8. Mehes K: Familial association of supernumerary nipple with renal cancer. Cancer Genet Cytogenet 1996;86:129-130. [PubMed]
9. Miguel M, Lopez I, Carrera A, Gotzens V, Liusa M: Supernumerary breast on the thigh of a woman. J Eur Acad Dermatol Venereal 2006;20:869-870. [PubMed]
10. Cohen PR, Kurzrock R: Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. Dermatol Clin 1995;13:211-229. [PubMed]
11. Mehregan AH: Supernumerary nipple. A histologic study. J Cutan Pathol 1981;8:96-104. [PubMed]
12. Johnson CAC, Felson B, Jolles H: Polythelia (supernumerary nipple): an update. South Med J 1986;79:1106-1112. [PubMed]
13. Goedert JJ, McKeen EA, Javadpour N, Ozols RF, Pottern LM, Fraumeni JF Jr: Polythelia and testicular cancer. Ann Intern Med 1984;101:646-647. [PubMed]
14. Goedert JJ, McKeen EA: Accessory nipples (AN) and renal cell carcinoma (RCC). Proc ASCO. March 1981;Washington, DC:465. Abstract.
15. Goedert JJ, McKeen EA, Fraumeni JF Jr: Polymastia and renal adenocarcinoma. Ann Intern Med 1981;95:182-184. [PubMed]
16. Paschal, BR: Polythelia [letter]. South Med J 1987;80:1201.
17. Mehes K, Szule E, Torzsok F, Meggyessy V: Supernumerary nipples and urologic malignancies. Cancer Genet Cytogenet 1987;24:185-188. [PubMed]
18. Urbani CE, Betti R: Associated conditions (Chapter 10). In: Accessory Mammary Tissue In Clinical Practice. (McGraw-Hill Libri Italia srl; Milan). 1996:35-56.
19. Urbani CE, Betti R: Aberrant mammary tissue and nephrourinary malignancy: a man with unilateral polythelia and ipsilateral renal adenocarcinoma associated with polycystic kidney disease. Cancer Genet Cytogenet 1996;87:88-89. [PubMed]
20. Meggyessy V, Mehes K: Association of supernumerary nipples with renal anomalies. J Pediatr 1987;111:412-413. [PubMed]
21. Aslan D, Gursel T, Kaya Z: Supernumerary nipples in children with hematologic disorders. Pediatr Hematol Oncol 2004;21:461-463. [PubMed]
22. Buonuomo PS, Ruggiero A, Vasta I, Attina G, Riccardi R, Zampino G: Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. Pediatr Hematol Oncol 2005;22:623-628. [PubMed]
23. Lapunzina P, Badia I, Galoppo C, De Matteo E, Silberman P, Tello A, Grichener J, Hughes-Benzie R: A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. J Med Genet 1998;35:153-156. [PubMed]
24. Martin VG, Pellettiere EV, Gress D, Miller AW: Paget's disease in an adolescent arising in a supernumerary nipple. J Cutan Pathol 1994;21:283-286. [PubMed]
25. Yilmaz AE, Sarifakioglu E, Dogan G, Cakir B, Karabel M, Gorpelioglu C, Turkay S: Supernumerary nipple: should we be alert? Pediatrics International 2010;52:190-191. [PubMed]
26. Grotto I, Browner-Elhanan K, Mimouni D, Varsano I, Cohen HA, Mimouni M: Occurrence of supernumerary nipples in children with kidney and urinary tract malformations. Pediatr Dermatol 2001;18:291-294. [PubMed]
27. Jojart G, Seres E: Supernumerary nipples and renal anomalies. Int Urol Nephrol 1994;26:141-144. [PubMed]
28. Gauthier B: Supernumerary nipples and urinary tract anomalies [letter]. J Pediatr 1988;112:503-503.
29. Urbani CE, Betti R: The significance of familial polythelia [letter]. J Am Acad Dermatol 1995;32:687-688. [PubMed]
30. Hersh JH, Bloom AS, Cromer AO, Harrison HL, Weisskopf B: Does a supernumerary nipple/renal field defect exist? Am J Dis Child 1987;141:989-991. [PubMed]
© 2013 Dermatology Online Journal