Trichilemmoma 

  • Author: William P Baugh, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 23, 2012
 

Background

In 1962, Headington and French first described trichilemmoma as a benign neoplasm with differentiation toward pilosebaceous follicular epithelium,[1] or outer root sheath. Their significance resides in the association with Cowden disease (multiple hamartoma syndrome) and the need to differentiate trichilemmomas from other more aggressive cutaneous tumors, such as trichilemmal carcinoma.

Clinically, trichilemmomas present as well-defined, smooth, asymptomatic papules or verrucoid growths. They may appear as a solitary or multiple lesions, and are usually found on the head and face (see the image below). These papules often mimic a basal cell carcinoma or a verruca.

A patient with trichilemmoma papules on the face. A patient with trichilemmoma papules on the face.

Trichilemmomas are often reported in association with several other nevi, most commonly nevus sebaceous of Jadassohn.[2] Several articles have reported trichilemmomas also appearing alongside trichoblastoma, sebaceous adenoma, and syringocystadenoma papilliferum.[3, 4]

When multiple trichilemmomas are present, Cowden disease should be suspected, especially if associated with oral fibromas, goiter, gastrointestinal polyposis, thyroid disease, or a family history of breast cancer.

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Pathophysiology

The underlying cause of trichilemmomas is unknown, although because of its histologic similarity to a wart, some researchers have investigated a viral etiology.[5, 6]

Johnson et al[7] performed histologic and ultrastructural analyses of 10 hyperkeratotic lesions on the extremities and 2 keratotic lesions on the face in a patient with Cowden disease. They were unable to find evidence of a viral infection in the tissues examined. Leonardi et al[8] performed a study on 25 trichilemmomas, revealing no evidence of human papillomavirus DNA in the lesions. Most trichilemmomas, therefore, appear to represent a benign tumor with differentiation towards the follicular outer root sheath (trichilemma).[6]

Stierman et al[9] were unable to detect human papillomavirus (HPV)–1, HPV-2, or mixed genital-type HPV infection in trichilemmomas using in situ hybridization. It was suggested that the association between HPV infection and the hair follicle is both one of the permanent sources of HPV DNA and the site of origin for trichilemmomas.[10] The development of trichilemmomas may be independent factors associated with increasing age, rather than HPV being an oncogenic stimulus for trichilemmomas.

Conversely, Rohwedder et al used the polymerase chain reaction (PCR) technique to show 11 cases of HPV-positive trichilemmoma. So far, HPV types 6b, 15, 17, 23, 27, and 28 have been identified in both solitary trichilemmoma lesions and in patients with Cowden syndrome.[10, 11]

Cowden syndrome is a rare autosomal dominant condition characterized by the formation of multiple types of hamartomas and neoplastic growths, which may be found throughout different body systems. This syndrome is thought to be due to the PTEN mutation, a germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome 10.[12] It is a point mutation of C to T at codon 1003 (CGA → TGA, arginine → stop codon). This defect demonstrates incomplete genetic penetrance with variable expressivity. Loss of heterozygosity may lead to tumor formation.[13]

The syndrome is allelic to other PTEN -related syndromes such as Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by genital lentigines and hamartomatous growths. Families or patients with overlapping features have been described.[14, 15]

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Epidemiology

Frequency

United States

Trichilemmomas are relatively common benign neoplasms of the follicular epithelium. Their true incidence is hard to determine and is probably underestimated. Approximately 40 cases per 100,000 consecutive skin biopsies may be found every year in any given dermatopathologic laboratory. Unlike isolated trichilemmomas, multiple trichilemmomas associated with Cowden disease are very rare.

International

The international frequency is unknown.

Mortality/Morbidity

Trichilemmomas are benign follicular epithelial neoplasms. They are associated with minimal morbidity and no mortality. These tumors usually need to be differentiated clinically from a verruca or a basal cell carcinoma. The only morbidity associated with these tumors occurs if they are treated as a basal cell carcinoma before histologic confirmation is obtained.

Race

Trichilemmomas may occur in any race. They are most common in white females, but they have also been reported in Japanese and black patients.

Sex

The male-to-female ratio of trichilemmomas is 1:1; however, Cowden disease has a female predominance, with a male-to-female ratio of 1:3.

Age

Trichilemmomas predominantly occur in patients aged 20-80 years. However, onset may occur as early as age 4 years, with a median age of onset at 30 years.[13]

Desmoplastic trichilemmomas (a histologic subtype of trichilemmoma) predominantly occur in white men over a wide age range, and the highest frequency is in the fifth decade.

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Contributor Information and Disclosures
Author

William P Baugh, MD  Assistant Clinical Professor of Dermatology, University of California Irvine School of Medicine and Western School of Medicine; Medical Director, Full Spectrum Dermatology; Consulting Staff, Department of Dermatology, St Jude Medical Center

William P Baugh, MD is a member of the following medical societies: American Academy of Dermatology, American Society for Laser Medicine and Surgery, and Christian Medical & Dental Society

Disclosure: Nothing to disclose.

Coauthor(s)

Cynthia L Chen DO  Intern, Pacific Hospital of Long Beach, California

Cynthia L Chen DO is a member of the following medical societies: American Osteopathic Association, American Osteopathic College of Dermatology, California Medical Association, and Los Angeles County Medical Association

Disclosure: Nothing to disclose.

David Barnette Jr, MD  Voluntary Associate Clinical Professor, University of California San Diego School of Medicine

David Barnette Jr, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology

Disclosure: Nothing to disclose.

James H Kerr, MD  Former Head (Retired), Department of Dermatology, Naval Medical Center at San Diego

James H Kerr, MD is a member of the following medical societies: American Academy of Dermatology and Pacific Dermatologic Association

Disclosure: Nothing to disclose.

Walter D Kucaba, DO  Private Family Practice, Simpsonville, South Carolina

Walter D Kucaba, DO is a member of the following medical societies: Aerospace Medical Association, American Medical Association, American Osteopathic Association, and Undersea and Hyperbaric Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

David P Fivenson, MD  Associate Director, St Joseph Mercy Hospital Dermatology Program, Ann Arbor, Michigan

David P Fivenson, MD is a member of the following medical societies: American Academy of Dermatology, Medical Dermatology Society, Michigan Dermatological Society, Michigan State Medical Society, Photomedicine Society, Society for Investigative Dermatology, and Wound Healing Society

Disclosure: Nothing to disclose.

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, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Edward F Chan, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Edward F Chan, 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, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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A patient with trichilemmoma papules on the face.
Low-power histologic view of a trichilemmoma.
Mid-power histologic view of a trichilemmoma.
Low-power histologic view of a desmoplastic trichilemmoma.
High-power histologic view of a desmoplastic trichilemmoma.
Tumor of the follicular infundibulum.
Clinical image of the face of a patient with Cowden syndrome.
Clinical image of the oral mucosa of a patient with Cowden syndrome.
Clinical image of palmar keratoses in a patient with Cowden syndrome.
Clinical image of sclerotic fibroma in a patient with Cowden syndrome.
Clinical image of multiple trichilemmomas in a patient with Cowden syndrome.
 
 
 
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