eMedicine Specialties > Dermatology > Benign Neoplasms

Trichoepithelioma

Author: Victor G Prieto, MD, PhD, Director of Dermatopathology, Professor, Departments of Pathology and Dermatology, University of Texas - MD Anderson Cancer Center
Coauthor(s): Christopher R Shea, MD, Professor and Chief, Section of Dermatology, Department of Medicine, University of Chicago
Contributor Information and Disclosures

Updated: Nov 19, 2008

Introduction

Background

Trichoepithelioma (TE) is a benign adnexal neoplasm. According to some authors, trichoepithelioma may be a superficial form of trichoblastoma. The gene involved in the familial form of trichoepithelioma is located on band 9p21.1 Other cases are associated with Brooke-Spiegler syndrome (BSS) caused by mutations of the cylindromatosis oncogene (CYLD), which maps to 16q12-q13.2 A 2006 study has suggested that abnormalities in this gene may result in either of three syndromes: BSS, familial cylindromatosis, and multiple familial trichoepithelioma.3

Pathophysiology

The gene associated with the familial type of trichoepithelioma links to the short arm of chromosome 9. Because several tumor suppressor genes (ie, p16, p15, and the gene for the basal cell nevus syndrome) are in this region, the gene for the development of familial trichoepithelioma also encodes for a tumor suppressor. If altered, cellular proliferation may be up-regulated because of a poorly functioning or absent tumor suppressor. Due to the presence of significant numbers of Merkel cells within the tumor nest and the detection of a sheath of CD34-positive dendrocytes around the tumor nests, it appears that trichoepithelioma differentiates toward or derives from hair structures, particularly the hair bulge. Rare instances of tumors resembling trichoepithelioma have been reported in animals.4

Frequency

United States

One dermatopathology laboratory reported 2.14 and 2.75 cases per year (9000 specimens).

Mortality/Morbidity

Most lesions show slow growth. In cases of multiple lesions, it may be disfiguring because of the involvement of the face. The rare cases described as having aggressive behavior (ie, ulceration, recurrence) are probably follicular tumors within the basal cell nevus syndrome and not trichoepithelioma.

Sex

Since trichoepithelioma is inherited in an autosomal dominant fashion, males and females receive the gene equally, but because of lessened expressivity and penetrance in men, most patients are women.

Age

Trichoepithelioma typically occurs in young to aging adults; however, the hereditary form may be seen in younger individuals. A single case study has reported a congenital lesion of desmoplastic trichoepithelioma.5

Clinical

History

  • Slow-growing, single or multiple papules or nodules are typically observed on the face (see Media File 1).
  • The occurrence of multiple trichoepitheliomas is transmitted as an autosomal dominant trait. Lesions first appear in childhood and gradually increase in number.
  • In patients with multiple lesions, interview the patient's family for a familial history of trichoepithelioma.

Physical

The primary lesions of trichoepithelioma are characterized by the following:

  • The lesions are rounded, skin-colored, firm papules or nodules that are 2-8 mm in diameter.
  • The lesions are located mainly on the nasolabial folds, the nose, the forehead, the upper lip, and the scalp; 50% of lesions occur on the face and the scalp. Occasionally, lesions also occur on the neck and the upper part of the trunk.
  • Ulceration is rare.
  • In the autosomal dominant form, multiple trichoepitheliomas may be present, usually on the nasolabial folds.
  • In some cases, the distribution is dermatomal. An association may exist with other cutaneous tumors (eg, cylindroma or BSS, spiradenoma, basal cell carcinoma, ungual fibromas) or dystrophia unguis congenita.
  • Trichoepithelioma may be part of the Rombo syndrome (ie, vermiculate atrophoderma, milia, hypertrichosis, trichoepithelioma, basal cell carcinoma, peripheral vasodilatation).
  • Solitary giant trichoepithelioma presents as a large, polypoid lesion, usually in the lower part of the trunk or in the gluteal area.

Causes

  • Familial cases appear to be related to a mutation in a gene encoding a tumor suppressor located on band 9q21. Also, the gene involved in basal cell carcinoma (PTCH, human patched gene located on band 9q22.3) appears to participate in the pathogenesis of trichoepithelioma.
  • BSS patients have a high incidence of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These patients may show mutations of the CYLD gene (cylindromatosis gene) that maps to 16q12-q13.

More on Trichoepithelioma

Overview: Trichoepithelioma
Differential Diagnoses & Workup: Trichoepithelioma
Treatment & Medication: Trichoepithelioma
Follow-up: Trichoepithelioma
Multimedia: Trichoepithelioma
References
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References

  1. Harada H, Hashimoto K, Ko MS. The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol. Jul 1996;107(1):41-3. [Medline].

  2. Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, et al. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol. May 2005;124(5):919-20. [Medline].

  3. Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet. Sep 2006;70(3):246-9. [Medline].

  4. Martín de Las Mulas J, Molina AM, Millán Y, Carrasco L, Moyano R, Mozos E. Spontaneous trichoepithelioma in a laboratory mouse: gross, microscopic and immunohistochemical findings. Lab Anim. Jan 2007;41(1):136-40. [Medline].

  5. Carter JJ, Kaur MR, Hargitai B, Brown R, Slator R, Abdullah A. Congenital desmoplastic trichoepithelioma. Clin Exp Dermatol. Sep 2007;32(5):522-4. [Medline].

  6. Brooke JD, Fitzpatrick JE, Golitz LE. Papillary mesenchymal bodies: a histologic finding useful in differentiating trichoepitheliomas from basal cell carcinomas. J Am Acad Dermatol. Sep 1989;21(3 Pt 1):523-8. [Medline].

  7. Pham TT, Selim MA, Burchette JL Jr, Madden J, Turner J, Herman C. CD10 expression in trichoepithelioma and basal cell carcinoma. J Cutan Pathol. Feb 2006;33(2):123-8. [Medline].

  8. Brownstein MH, Shapiro L. Desmoplastic trichoepithelioma. Cancer. Dec 1977;40(6):2979-86. [Medline].

  9. Takei Y, Fukushiro S, Ackerman AB. Criteria for histologic differentiation of desmoplastic trichoepithelioma (sclerosing epithelial hamartoma) from morphea-like basal-cell carcinoma. Am J Dermatopathol. Jun 1985;7(3):207-21. [Medline].

  10. Thewes M, Worret WI, Engst R, Ring J. Stromelysin-3: a potent marker for histopathologic differentiation between desmoplastic trichoepithelioma and morphealike basal cell carcinoma. Am J Dermatopathol. Apr 1998;20(2):140-2. [Medline].

  11. Sajben FP, Ross EV. The use of the 1.0 mm handpiece in high energy, pulsed CO2 laser destruction of facial adnexal tumors. Dermatol Surg. Jan 1999;25(1):41-4. [Medline].

  12. Shaffelburg M, Miller R. Treatment of multiple trichoepithelioma with electrosurgery. Dermatol Surg. Oct 1998;24(10):1154-6. [Medline].

  13. Bettencourt MS, Prieto VG, Shea CR. Trichoepithelioma: a 19-year clinicopathologic re-evaluation. J Cutan Pathol. Sep 1999;26(8):398-404. [Medline].

  14. España A, García-Amigot F, Aguado L, García-Foncillas J. A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. Arch Dermatol. Sep 2007;143(9):1209-10. [Medline].

  15. Hartschuh W, Schulz T. Merkel cells are integral constituents of desmoplastic trichoepithelioma: an immunohistochemical and electron microscopic study. J Cutan Pathol. Oct 1995;22(5):413-21. [Medline].

  16. Hunt SJ, Abell E. Malignant hair matrix tumor ("malignant trichoepithelioma") arising in the setting of multiple hereditary trichoepithelioma. Am J Dermatopathol. Jun 1991;13(3):275-81. [Medline].

  17. Izikson L, Bhan A, Zembowicz A. Androgen receptor expression helps to differentiate basal cell carcinoma from benign trichoblastic tumors. Am J Dermatopathol. Apr 2005;27(2):91-5. [Medline].

  18. Johnson SC, Bennett RG. Occurrence of basal cell carcinoma among multiple trichoepitheliomas. J Am Acad Dermatol. Feb 1993;28(2 Pt 2):322-6. [Medline].

  19. Kechijian P, Connors RC, Ackerman AB. Trichoepithelioma vs. basal-cell carcinoma: criteria for histologic differentiation. J Dermatol Surg. Dec 1975;1(4):22-3. [Medline].

  20. Kirchmann TT, Prieto VG, Smoller BR. CD34 staining pattern distinguishes basal cell carcinoma from trichoepithelioma. Arch Dermatol. May 1994;130(5):589-92. [Medline].

  21. Lee YS, Fong PH. Secondary localized amyloidosis in trichoepithelioma. A light microscopic and ultrastructural study. Am J Dermatopathol. Oct 1990;12(5):469-78. [Medline].

  22. Matt D, Xin H, Vortmeyer AO, Zhuang Z, Burg G, Böni R. Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol. May 2000;136(5):657-60. [Medline].

  23. Pariser RJ. Multiple hereditary trichoepitheliomas and basal cell carcinomas. J Cutan Pathol. Apr 1986;13(2):111-7. [Medline].

  24. Rosso R, Lucioni M, Savio T, Borroni G. Trichoblastic sarcoma: a high-grade stromal tumor arising in trichoblastoma. Am J Dermatopathol. Feb 2007;29(1):79-83. [Medline].

  25. Schulz T, Proske S, Hartschuh W, Kurzen H, Paul E, Wünsch PH. High-grade trichoblastic carcinoma arising in trichoblastoma: a rare adnexal neoplasm often showing metastatic spread. Am J Dermatopathol. Feb 2005;27(1):9-16. [Medline].

  26. Swanson PE, Fitzpatrick MM, Ritter JH, Glusac EJ, Wick MR. Immunohistologic differential diagnosis of basal cell carcinoma, squamous cell carcinoma, and trichoepithelioma in small cutaneous biopsy specimens. J Cutan Pathol. Mar 1998;25(3):153-9. [Medline].

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Further Reading

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Keywords

trichoblastoma, epithelioma adenoides cysticum, trichoepithelioma papulosum multiplex, sclerosing epithelial hamartoma, Brooke tumor, TE, basal cell carcinoma

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Contributor Information and Disclosures

Author

Victor G Prieto, MD, PhD, Director of Dermatopathology, Professor, Departments of Pathology and Dermatology, University of Texas - MD Anderson Cancer Center
Victor G Prieto, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Medical Association, American Society for Clinical Pathologists, American Society of Dermatopathology, College of American Pathologists, European Society of Pathology, International Society of Dermatopathology, Society for Investigative Dermatology, and United States and Canadian Academy of Pathology
Disclosure: Nothing to disclose.

Coauthor(s)

Christopher R Shea, MD, Professor and Chief, Section of Dermatology, Department of Medicine, University of Chicago
Christopher R Shea, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society of Dermatopathology, Arthur Purdy Stout Society, Association of Professors of Dermatology, Chicago Dermatological Society, Dermatology Foundation, Illinois Dermatological Society, International Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Evan R Farmer, MD, Professor of Dermatology, Johns Hopkins University School of Medicine, Clinical Professor of Pathology, Virginia Commonwealth University School of Medicine; Consulting Staff, Department of Dermatology, Johns Hopkins Hospital, VCU Health Services
Evan R Farmer, MD is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, American Medical Association, American Society of Dermatopathology, and International Society of Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Warren R Heymann, MD, Head, Division of Dermatology, Professor, Department of Internal Medicine, University of Medicine and Dentistry of New Jersey
Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

 
 
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