Perianal Cysts

Perianal Cysts

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Some specific varieties of cysts are only found in the perianal region, including anal duct/gland cysts and sacrococcygeal teratomas. Before reviewing the anatomy of the region, defining specific terminology is helpful, because the definition of the perianal region has been quite variable in other sources. For the purposes of this article, the perianal region is defined as the internal and external region of the anus.

A cyst is defined as an abnormal sac with a membranous lining, containing gas, fluid, or semisolid material. Most perianal cysts are of one of the following four types:

Although cysts differ with respect to epidemiology, etiology, and outcome, the diagnostic evaluation of all types is similar and must include ruling out malignancy. Although this is an unusual presentation, rare cases of cancer discovered in cysts have been reported.

Sacrococcygeal teratomas in adults most commonly are benign; these are also called mature teratomas. Rare cases have been reported of adults with malignant teratomas, which contain frankly malignant tissue of germ cell origin, such as germinoma (eg, seminoma or dysgerminoma) and choriocarcinoma, in addition to mature and/or embryonic tissues. [1]

Tumors containing malignant non ̶ germ cell elements have been termed teratoma with malignant transformation; such transformation has included adenocarcinoma or squamous cell carcinoma found in mature teratomas of adults.

Patients with either a malignant teratoma or a benign teratoma with malignant transformation have a considerable increase in mortality, dying from the disease within 2 months to 2 years. This is in comparison with patients with benign disease, who are alive without disease as long as 4 years after treatment.

The majority of teratomas in infancy and childhood are also benign; however, in this population, a tendency exists toward an increase in malignant potential with increasing age. Therefore, surgical excision is performed almost uniformly.

Perianal skin contains apocrine sweat glands (ie, sweat glands in association with hair follicles that secrete a viscous, odorless sweat) and eccrine sweat glands (ie, coiled sweat glands). However, many of the apocrine glands remain functionless.

In addition, a variable number of sebaceous (ie, oil-secreting) glands are present in the perianal region, either opening into a hair follicle or existing as individual, free sebaceous glands at the anal verge. Inflammation of any of these glandular units may lead to the development of an epidermoid cyst.

The anal verge is the transitional zone between the perianal skin and the moist, hairless, modified skin of the anal canal. The anal canal is the portion of the distal segment of the intestinal tract that lies between the termination of the rectal mucosa superiorly and the beginning of the perianal skin. This skin can be differentiated from the distal anal canal by the presence of the epidermal appendages mentioned previously (ie, sweat glands and hair follicles).

The anal canal has an average of six to 12 anal ducts, which open into anal crypts (also known as anal sinuses or Morgagni sinuses). Most of these ducts have orifices in the posterior portion of the anal canal. Communicating with the ducts are straight or spiral, slender, tubular structures called anal glands. These glands, imbedded in the mucous membrane of the anus, secrete a viscous sweat, lubricating the anal canal.

Lesions of the anus should be described as right or left lesions or anterior or posterior lesions rather than as a position on a clock face, which depends on whether the patient is in a prone or supine position.

The etiology of anal duct cysts is unknown. One theory states that anal glands lose their communication with the anal ducts during development but retain their ability to secrete fluid and, thus, create a cyst. Another theory suggests that the anal glands are not canalized during embryogenesis. As the epithelium in these noncanalized nests of glandular tissue secrete fluid, cystic formations result.

Various theories also exist to explain the origin of sacrococcygeal teratomas. These include nonsexual reproduction of germ cells within the gonads or in extragonadal sites, wandering germ cells of nonparthenogenetic origin left behind during the migration of embryonic germ cells from yolk sac to gonad, or origin in other totipotential embryonic cells.

Displaced ectodermal structures along the lines of embryonic fusion may cause dermoid cysts. The wall of the cyst is formed of epithelium-lined connective tissue, including skin appendages, and contains keratin, sebum, and hair.

These result from inflammation around a pilosebaceous follicle and frequently are seen following the more severe lesions of acne vulgaris. Some epidermoid cysts may result from deep implantation of epidermis by blunt penetrating injury or following a surgical procedure.

Kulayat et al reported that three out of 97 anal duct cyst cases had perianal involvement. [2] However, these cysts occur more commonly in the presacral, precoccygeal, and retrorectal spaces or high in the anterior or posterior anal canal. Anal duct cysts present most commonly in the third decade of life, and they have a higher incidence in men than in women.

The sacrococcygeal area is the most frequent site of teratoma in infancy, reported to occur in 1 of 35,000-40,000 births (though a study from southern Sweden cited a higher figure, 1 in 13,982 [3] ). A female predominance exists. Sacrococcygeal teratoma is the most common neoplasm in newborns [4] ; it rarely presents in adulthood. [5] Unlike teratomas in infants, which are externally visible in 90% of cases, sacrococcygeal teratomas in adults are confined mostly to the intrapelvic space.

These cysts are usually found in the genital and perianal areas in adults; however, in children, they are seen most often in the head and neck regions. About 40% of dermoid cysts are present at birth, and 70% are present by age 5 years. They are more common in women than in men.

These cysts are relatively common and mostly affect young and middle-aged adults. They are rare in childhood.

For the three nonteratoma types of cysts, the prognosis is excellent.

For patients with benign teratomas, adequate surgical excision is curative. Malignant teratomas or teratomas with malignant transformation have a less favorable prognosis, with neurologic involvement being an added negative prognostic factor. [6, 7]  A multi-institutional study by Akinkuoto et al found that a tumor volume–to–fetal weight ratio higher than 0.12 before 24 weeks’ gestation was objectively predictive of poor outcomes in fetuses with sacrococcygeal tumors. [8]

Risks for recurrence include immature or malignant histology and incomplete resection. [9, 10] One study examining recurrence risk did not find an association between microscopic involvement at the resection margins and recurrence, as long as the involvement was not yolk sac tumor histology. Recurrence risk is greatest within the initial 3 years after resection; late recurrences rarely occur.

Education for patients with malignancy involves a treatment plan and any necessary referrals, such as with an oncologist and colorectal surgeon. The patient should be instructed in proper hygiene to maintain a clean and dry perianal area, especially during wound healing.

For patient education information, see the Digestive Disorders Center, as well as Anal Abscess, Rectal Pain, Rectal Bleeding, and Constipation in Adults.

Lianos G, Alexiou G, Zigouris A, Voulgaris S. Sacrococcygeal neoplastic lesions. J Cancer Res Ther. 2013 Jul-Sep. 9(3):343-7. [Medline].

Kulaylat MN, Doerr RJ, Neuwirth M, et al. Anal duct/gland cyst: report of a case and review of the literature. Dis Colon Rectum. 1998 Jan. 41(1):103-10. [Medline].

Hambraeus M, Arnbjörnsson E, Börjesson A, Salvesen K, Hagander L. Sacrococcygeal teratoma: A population-based study of incidence and prenatal prognostic factors. J Pediatr Surg. 2016 Mar. 51 (3):481-5. [Medline].

Lee MY, Won HS, Hyun MK, Lee HY, Shim JY, Lee PR, et al. Perinatal outcome of sacrococcygeal teratoma. Prenat Diagn. 2011 Dec. 31 (13):1217-21. [Medline].

Luk SY, Tsang YP, Chan TS, Lee TF, Leung KC. Sacrococcygeal teratoma in adults: case report and literature review. Hong Kong Med J. 2011 Oct. 17(5):417-20. [Medline].

Hedrick HL, Flake AW, Crombleholme TM, et al. Sacrococcygeal teratoma: prenatal assessment, fetal intervention, and outcome. J Pediatr Surg. 2004 Mar. 39(3):430-8; discussion 430-8. [Medline].

Isaacs H Jr. Perinatal (fetal and neonatal) germ cell tumors. J Pediatr Surg. 2004 Jul. 39(7):1003-13. [Medline].

Akinkuotu AC, Coleman A, Shue E, Sheikh F, Hirose S, Lim FY, et al. Predictors of poor prognosis in prenatally diagnosed sacrococcygeal teratoma: A multiinstitutional review. J Pediatr Surg. 2015 May. 50 (5):771-4. [Medline].

De Backer A, Madern GC, Hakvoort-Cammel FG, Haentjens P, Oosterhuis JW, Hazebroek FW. Study of the factors associated with recurrence in children with sacrococcygeal teratoma. J Pediatr Surg. 2006 Jan. 41 (1):173-81; discussion 173-81. [Medline].

Derikx JP, De Backer A, van de Schoot L, et al. Factors associated with recurrence and metastasis in sacrococcygeal teratoma. Br J Surg. 2006 Dec. 93(12):1543-8. [Medline].

Nguyen CT, Kratovil T, Edwards MJ. Retroperitoneal teratoma presenting as an abscess in childhood. J Pediatr Surg. 2007 Nov. 42(11):E21-3. [Medline].

Jain V, Misra S, Tiwari S, Rahul K, Jain H. Recurrent Perianal Sinus in Young Girl Due To Pre-sacral Epidermoid Cyst. Ann Med Health Sci Res. 2013 Jul. 3 (3):458-60. [Medline]. [Full Text].

Gödeke J, Engel V, Münsterer O. [Laparoscopic-assisted mobilisation and resection of a sacrococcygeal teratoma Altman type III]. Zentralbl Chir. 2017 Jun. 142 (3):255-256. [Medline].

Lee KH, Tam YH, Chan KW, Cheung ST, Sihoe J, Yeung CK. Laparoscopic-assisted excision of sacrococcygeal teratoma in children. J Laparoendosc Adv Surg Tech A. 2008 Apr. 18 (2):296-301. [Medline].

Egler RA, Gosiengfiao Y, Russell H, Wickiser JE, Frazier AL. Is surgical resection and observation sufficient for stage I and II sacrococcygeal germ cell tumors? A case series and review. Pediatr Blood Cancer. 2017 May. 64 (5):[Medline].

Sananes N, Javadian P, Schwach Werneck Britto I, Meyer N, Koch A, Gaudineau A, et al. Technical aspects and effectiveness of percutaneous fetal therapies for large sacrococcygeal teratomas: cohort study and literature review. Ultrasound Obstet Gynecol. 2016 Jun. 47 (6):712-9. [Medline].

Ozkan KU, Bauer SB, Khoshbin S, et al. Neurogenic bladder dysfunction after sacrococcygeal teratoma resection. J Urol. 2006 Jan. 175(1):292-6; discussion 296. [Medline].

Padilla BE, Vu L, Lee H, MacKenzie T, Bratton B, O’Day M, et al. Sacrococcygeal teratoma: late recurrence warrants long-term surveillance. Pediatr Surg Int. 2017 Nov. 33 (11):1189-1194. [Medline].

Ruben Peralta, MD, FACS Professor of Surgery, Anesthesia and Emergency Medicine, Senior Medical Advisor, Board of Directors, Program Chief of Trauma, Emergency and Critical Care, Consulting Staff, Professor Juan Bosch Trauma Hospital, Dominican Republic

Ruben Peralta, MD, FACS is a member of the following medical societies: American Association of Blood Banks, American College of Surgeons, American Medical Association, Association for Academic Surgery, Massachusetts Medical Society, Society of Critical Care Medicine, Society of Laparoendoscopic Surgeons, Eastern Association for the Surgery of Trauma, American College of Healthcare Executives

Disclosure: Nothing to disclose.

Clifford Y Ko, MD, MS Professor, Department of Surgery, University of California, Los Angeles, David Geffen School of Medicine

Clifford Y Ko, MD, MS is a member of the following medical societies: American College of Surgeons, American Medical Association, American Society of Colon and Rectal Surgeons, Association for Academic Surgery, California Medical Association, New York Academy of Sciences

Disclosure: Nothing to disclose.

John Geibel, MD, DSc, MSc, AGAF Vice Chair and Professor, Department of Surgery, Section of Gastrointestinal Medicine, Professor, Department of Cellular and Molecular Physiology, Yale University School of Medicine; Director of Surgical Research, Department of Surgery, Yale-New Haven Hospital; American Gastroenterological Association Fellow

John Geibel, MD, DSc, MSc, AGAF is a member of the following medical societies: American Gastroenterological Association, American Physiological Society, American Society of Nephrology, Association for Academic Surgery, International Society of Nephrology, New York Academy of Sciences, Society for Surgery of the Alimentary Tract

Disclosure: Nothing to disclose.

Marc D Basson, MD, PhD, MBA, FACS Professor, Chair, Department of Surgery, Assistant Dean for Faculty Development in Research, Michigan State University College of Human Medicine

Marc D Basson, MD, PhD, MBA, FACS is a member of the following medical societies: Alpha Omega Alpha, American College of Surgeons, American Gastroenterological Association, Phi Beta Kappa, and Sigma Xi

Disclosure: Nothing to disclose.

Amy L Friedman, MD Professor of Surgery, Director of Transplantation, State University of New York Upstate Medical University College of Medicine, Syracuse

Amy L Friedman, MD is a member of the following medical societies: American College of Surgeons, American Medical Association, American Medical Women’s Association, American Society for Artificial Internal Organs, American Society of Transplant Surgeons, American Society of Transplantation, Association for Academic Surgery, Association of Women Surgeons, International College of Surgeons, International Liver Transplantation Society, NewYork Academy of Sciences, Pennsylvania Medical Society, Philadelphia County Medical Society, Society of Critical Care Medicine, and Transplantation Society

Disclosure: Nothing to disclose.

Sarah C Langenfeld, MD Assistant Professor, Department of Psychiatry, University of Massachusetts Medical School; Attending Psychiatrist, Community HealthLink

Sarah C Langenfeld, MD is a member of the following medical societies: American Medical Association, American Psychiatric Association, and Massachusetts Medical Society

Disclosure: Nothing to disclose.

Kim Takahashi, MD, MPH Staff Physician, Department of Surgery, Baylor College of Medicine, Texas Medical Center

Kim Takahashi, MD, MPH is a member of the following medical societies: American College of Surgeons

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Perianal Cysts

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