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. Notice the numerous, small papules, predominantly close to the midline.

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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 Examination

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.^[15]

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.

Differential Diagnoses

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. 2005 May. 124(5):919-20. [QxMD MEDLINE Link].
Vanecek T, Halbhuber Z, Kacerovska D, Martinek P, Sedivcova M, Carr RA, et al. Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. Am J Dermatopathol. 2014 Nov. 36(11):868-74. [QxMD MEDLINE Link].
Guardoli D, Argenziano G, Ponti G, Nasti S, Zalaudek I, Moscarella E, et al. A novel CYLD germline mutation in Brooke-Spiegler syndrome. J Eur Acad Dermatol Venereol. 2014 Jul 30. [QxMD MEDLINE Link].
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. 2006 Sep. 70(3):246-9. [QxMD MEDLINE Link].
Sehrawat M, Jairath V, Jain VK. Nonfamilial Multiple Trichoepithelioma: Few and Far Between. Indian J Dermatol. 2016 Jan-Feb. 61 (1):78-80. [QxMD MEDLINE Link].
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. 2010 Jan. 302(1):67-70. [QxMD MEDLINE Link].
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. 2009 Jan. 34(1):77-80. [QxMD MEDLINE Link].
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. 2009 Jul. 30(7):1025-36. [QxMD MEDLINE Link].
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. 2007 Jan. 41(1):136-40. [QxMD MEDLINE Link].
Matt D, Xin H, Vortmeyer AO, Zhuang Z, Burg G, Boni R. Sporadic trichoepithelioma demonstrates deletions at 9q22.3. Arch Dermatol. 2000 May. 136(5):657-60. [QxMD MEDLINE Link].
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. 2007 Sep. 143(9):1209-10. [QxMD MEDLINE Link].
Carter JJ, Kaur MR, Hargitai B, Brown R, Slator R, Abdullah A. Congenital desmoplastic trichoepithelioma. Clin Exp Dermatol. 2007 Sep. 32(5):522-4. [QxMD MEDLINE Link].
Rosso R, Lucioni M, Savio T, Borroni G. Trichoblastic sarcoma: a high-grade stromal tumor arising in trichoblastoma. Am J Dermatopathol. 2007 Feb. 29(1):79-83. [QxMD MEDLINE Link].
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. 2005 Feb. 27(1):9-16. [QxMD MEDLINE Link].
Heller J, Roche N, Hameed M. Trichoepithelioma of the vulva: report of a case and review of the literature. J Low Genit Tract Dis. 2009 Jul. 13(3):186-7. [QxMD MEDLINE Link].
Carrasquillo OY, Cruzval-OʼReilly E, Sánchez JE, Valentín-Nogueras SM. Differentiation of Basal Cell Carcinoma and Trichoepithelioma: An Immunohistochemical Study. Am J Dermatopathol. 2020 Aug 17. [QxMD MEDLINE Link].
Diago A, Requena L, Traves V, Requena C. Solid Microcystic Adnexal Carcinoma on the Thigh: An Unusual Location. Am J Dermatopathol. 2020 Feb. 42 (2):122-124. [QxMD MEDLINE Link].
Oliveira A, Arzberger E, Zalaudek I, Hofmann-Wellenhof R. Imaging of desmoplastic trichoepithelioma by high-definition optical coherence tomography. Dermatol Surg. 2015 Apr. 41 (4):522-5. [QxMD MEDLINE Link].
Brooke JD, Fitzpatrick JE, Golitz LE. Papillary mesenchymal bodies: a histologic finding useful in differentiating trichoepitheliomas from basal cell carcinomas. J Am Acad Dermatol. 1989 Sep. 21(3 Pt 1):523-8. [QxMD MEDLINE Link].
Hartschuh W, Schulz T. Merkel cells are integral constituents of desmoplastic trichoepithelioma: an immunohistochemical and electron microscopic study. J Cutan Pathol. 1995 Oct. 22(5):413-21. [QxMD MEDLINE Link].
Bedir R, Sehitoglu I, Yurdakul C, Saygin I, Üstüner P, Dilek N. The importance of cytokeratin 19 expression in the differentiation of Basal cell carcinoma and trichoepithelioma. J Clin Diagn Res. 2015 Jan. 9 (1):EC01-4. [QxMD MEDLINE Link].
Izikson L, Bhan A, Zembowicz A. Androgen receptor expression helps to differentiate basal cell carcinoma from benign trichoblastic tumors. Am J Dermatopathol. 2005 Apr. 27(2):91-5. [QxMD MEDLINE Link].
Pham TT, Selim MA, Burchette JL Jr, Madden J, Turner J, Herman C. CD10 expression in trichoepithelioma and basal cell carcinoma. J Cutan Pathol. 2006 Feb. 33(2):123-8. [QxMD MEDLINE Link].
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. 2008 May. 35(5):477-83. [QxMD MEDLINE Link].
Brownstein MH, Shapiro L. Desmoplastic trichoepithelioma. Cancer. 1977 Dec. 40(6):2979-86. [QxMD MEDLINE Link].
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. 1985 Jun. 7(3):207-21. [QxMD MEDLINE Link].
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. 1998 Apr. 20(2):140-2. [QxMD MEDLINE Link].
Jedrych J, Leffell D, McNiff JM. Desmoplastic trichoepithelioma with perineural involvement: a series of seven cases. J Cutan Pathol. 2012 Mar. 39(3):317-23. [QxMD MEDLINE Link].
McFaddin C, Sirohi D, Castro-Echeverry E, Fernandez MP. Desmoplastic trichoepithelioma with pseudocarcinomatous hyperplasia: a report of three cases. J Cutan Pathol. 2015 Feb. 42 (2):102-7. [QxMD MEDLINE Link].
Kechijian P, Connors RC, Ackerman AB. Trichoepithelioma vs. basal-cell carcinoma: criteria for histologic differentiation. J Dermatol Surg. 1975 Dec. 1(4):22-3. [QxMD MEDLINE Link].
Kirchmann TT, Prieto VG, Smoller BR. CD34 staining pattern distinguishes basal cell carcinoma from trichoepithelioma. Arch Dermatol. 1994 May. 130(5):589-92. [QxMD MEDLINE Link].
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. 1998 Mar. 25(3):153-9. [QxMD MEDLINE Link].
Tebcherani AJ, de Andrade HF Jr, Sotto MN. Diagnostic utility of immunohistochemistry in distinguishing trichoepithelioma and basal cell carcinoma: evaluation using tissue microarray samples. Mod Pathol. 2012 Jun 8. [QxMD MEDLINE Link].
Tse JY, Nguyen AT, Le LP, Hoang MP. Microcystic Adnexal Carcinoma Versus Desmoplastic Trichoepithelioma: A Comparative Study. Am J Dermatopathol. 2012 Jun 20. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
Fisher GH, Geronemus RG. Treatment of multiple familial trichoepitheliomas with a combination of aspirin and a neutralizing antibody to tumor necrosis factor alpha: A case report and hypothesis of mechanism. Arch Dermatol. 2006 Jun. 142 (6):782-3. [QxMD MEDLINE Link].
Brinkhuizen T, Weijzen CA, Eben J, Thissen MR, van Marion AM, Lohman BG, et al. Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma. PLoS One. 2014. 9 (9):e106427. [QxMD MEDLINE Link].
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. 1999 Jan. 25(1):41-4. [QxMD MEDLINE Link].
Shaffelburg M, Miller R. Treatment of multiple trichoepithelioma with electrosurgery. Dermatol Surg. 1998 Oct. 24(10):1154-6. [QxMD MEDLINE Link].
Richard A, Chevalier JM, Verneuil L, Sergent B, Tesnière A, Dolfus C, et al. [CO2 laser treatment of skin cylindromas in Brooke-Spiegler syndrome]. Ann Dermatol Venereol. 2014 May. 141(5):346-53. [QxMD MEDLINE Link].
Thomas LW, Pham CT, Coakley B, Lee P. Treatment of Brooke-Spiegler Syndrome Trichoepitheliomas with Erbium: Yttrium-Aluminum-Garnet Laser: A Case Report and Review of the Literature. J Clin Aesthet Dermatol. 2020 Jul. 13 (7):41-44. [QxMD MEDLINE Link].

Media Gallery

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

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Author

Victor G Prieto, MD, PhD Ferenc and Phyllis Gyorkey Chair for Research and Education in Pathology, 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, United States and Canadian Academy of Pathology

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Myriad (consultant regarding MyPath test in melanocytic lesions).

Coauthor(s)

Christopher R Shea, MD Eugene J Van Scott Professor in Dermatology, Chief, Section of Dermatology, Department of Medicine, University of Chicago, The Pritzker School of Medicine

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, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster 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, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Trichoepithelioma Clinical Presentation

History

Physical Examination

References

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