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: Jan 29, 2010

Introduction

Background

Trichoepithelioma 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 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 one of 3 syndromes: Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma.3

A 2009 study reports a novel missense mutation in the CYLD gene, heterozygous nucleotide G-->A transition at position 2,317 in exon 17, in a Chinese family with multiple familial trichoepithelioma.4 Additionally, a novel splicing mutation in the CYLD gene (IVS12 + 1 G-->A) has been reported in a Taiwanese family with multiple familial trichoepithelioma.5

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. Studies have indicated that CYLD encodes a deubiquitinating enzyme that negatively regulates the nuclear factor (NF)–kappaB and c-Jun N-terminal kinase (JNK) pathways.6 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.7

Frequency

United States

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

Mortality/Morbidity

Most trichoepitheliomas show slow growth. In cases of multiple trichoepitheliomas, the lesions may cause disfigurement because of involvement of the face. The rare cases of trichoepithelioma 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.8

Clinical

History

  • Slow-growing, single or multiple papules or nodules are typically observed on the face, as demonstrated in the image below.

  • Characteristic clinical morphologic features. Not...

    Characteristic clinical morphologic features. Notice the numerous, small papules, predominantly close to the midline.

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    Characteristic clinical morphologic features. Not...

    Characteristic clinical morphologic features. Notice the numerous, small papules, predominantly close to the midline.

  • 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 trichoepitheliomas, 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. Heller et al report a rare case of trichoepithelioma of the vulva.9
  • 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 Brooke-Spiegler syndrome, 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. Additionally, the gene involved in basal cell carcinoma (PTCH, human patched gene located on band 9q22.3) appears to participate in the pathogenesis of trichoepithelioma.10
  • Brooke-Spiegler syndrome 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 map to 16q12-q13.11

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, Teszas 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. Wang FX, Yang LJ, Li M, Zhang SL, Zhu XH. A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. Arch Dermatol Res. Jan 2010;302(1):67-70. [Medline].

  5. Huang TM, Chao SC, Lee JY. A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. Clin Exp Dermatol. Jan 2009;34(1):77-80. [Medline].

  6. Blake PW, Toro JR. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat. Jul 2009;30(7):1025-36. [Medline].

  7. Martín de Las Mulas J, Molina AM, Millan 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].

  8. 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].

  9. Heller J, Roche N, Hameed M. Trichoepithelioma of the vulva: report of a case and review of the literature. J Low Genit Tract Dis. Jul 2009;13(3):186-7. [Medline].

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

  11. Espana A, Garcia-Amigot F, Aguado L, Garcia-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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. Ramos-Ceballos FI, Pashaei S, Kincannon JM, Morgan MB, Smoller BR. Bcl-2, CD34 and CD10 expression in basaloid follicular hamartoma, vellus hair hamartoma and neurofollicular hamartoma demonstrate full follicular differentiation. J Cutan Pathol. May 2008;35(5):477-83. [Medline].

  17. 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].

  18. 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].

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

  20. 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].

  21. 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].

  22. 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].

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

  24. 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].

  25. Alessi SS, Sanches JA, de Oliveira WR, Messina MC, Pimentel ER, Festa Neto C. Treatment of cutaneous tumors with topical 5% imiquimod cream. Clinics (Sao Paulo). 2009;64(10):961-6. [Medline].

  26. 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].

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

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

  29. 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].

  30. 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].

  31. 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].

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Further Reading

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Keywords

trichoepithelioma, 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 Pathology, 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, Clinical Professor of Pathology and Dermatology, Department of Pathology, Virginia Commonwealth University School of Medicine
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 M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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