Trichoepithelioma Clinical Presentation

  • Author: Victor G Prieto, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 29, 2010
 

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. NotiCharacteristic 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.

Next

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, hypotrichosis, 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.
Previous
Next

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]

Previous
Proceed to Differential Diagnoses
 
 
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.

Specialty Editor Board

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.

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.

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.

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.

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].

 
Previous
Next
 
Characteristic clinical morphologic features. Notice the numerous, small papules, predominantly close to the midline.
Image of glass slide showing a nodular, very well-circumscribed proliferation.
Well-circumscribed, superficial lesion composed of clusters of basaloid cells within a fibrous stroma. This arrangement of epithelial cells and stroma is described as organoid.
The cystic spaces contain keratin. Notice the lack of mitotic figures or apoptotic bodies.
Papillary-mesenchymal bodies are structures associated with hair follicle differentiation. They are characterized by an aggregate of spindle, stromal cells, closely apposed to a hair bulb (arrow; darkly staining, basaloid epithelial cells).
Because trichoepitheliomas recapitulate follicular differentiation, they may contain cells commonly seen in hair follicles such as melanocytes. This image illustrates both melanocytes (black arrow) and dermal melanophages (white arrow).
Immunohistochemical studies detect expression of CD34 by many of the dendritic cells that surround the tumor aggregates (anti-CD34, diaminobenzidine, and hematoxylin).
Desmoplastic variant. Notice that many of the aggregates of basaloid cells are small, resembling a syringoma; however, they contain keratin instead of eccrine secretion. Also notice the characteristic markedly fibrous stroma.
High-powered view of desmoplastic trichoepithelioma. Notice the cluster of squamous cells surrounding a small cystic area containing keratin. Intervening stroma is markedly fibrous.
The malignant counterpart, trichilemmal carcinoma, typically shows areas with infiltrative growth and necrosis.
Trichilemmal carcinoma cells have large, lightly stained cytoplasm with large, pleomorphic nuclei. As a sign of follicular differentiation, some cells may display the characteristic cytoplasmic, red, trichohyalin granules (arrows).
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.