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Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 105-107

Familial trichoepithelioma

Department of Dermatology, Venereology, and Leprology, Government Medical College, Kota, Rajasthan, India

Date of Web Publication9-Apr-2015

Correspondence Address:
Suresh Kumar Jain
Department of Dermatology, Venereology, and Leprology, Government Medical College, Kota - 324 001, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.152136

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A 36-year-old mother and her 9-year-old daughter presented with multiple facial papules. In both cases, the papules had started to develop at about the age of 8-9 years. Biopsy of one of the mother's papules revealed a trichoepithelioma. Both mother and daughter were otherwise well. However, there have been rare reports of multiple trichoepitheliomas being associated with systemic conditions. Multiple trichoepitheliomas are inherited in an autosomal dominant manner and have been mapped to chromosome 9p21.

Keywords: Appendageal tumors, facial papules, familial, inherited

How to cite this article:
Kumar R, Mehta P, Jain M, Yadav D, Jain SK. Familial trichoepithelioma. Indian J Paediatr Dermatol 2015;16:105-7

How to cite this URL:
Kumar R, Mehta P, Jain M, Yadav D, Jain SK. Familial trichoepithelioma. Indian J Paediatr Dermatol [serial online] 2015 [cited 2021 Sep 26];16:105-7. Available from: https://www.ijpd.in/text.asp?2015/16/2/105/152136

  Introduction Top

Trichoepithelioma is hamartoma of hair germ composed of immature islands of basaloid cells. Most affected patients are young adults. It presents as solitary nonfamilial lesion or multiple lesions as an autosomal dominant known as multiple familial trichoepitheliomas (MFT) or Brook-Fordyce disease. [1]

  Case report Top

A 9-year-old female child presented with multiple skin coloured asymptomatic papular lesions located mainly on the central part of the face around the nose, chin and forehead. Lesion also present over chin, periorbital area, retroauricular area [Figure 1]. Lesions started at age of 8 years and continued to appear till date. No other cutaneous lesions were present on other parts of the body. There was a history of similar lesions in mother, maternal grandfather, maternal uncle, and brother [Figure 2]. Lesions in all family members appeared at the age of about 9-10 years. In the mother, lesions are very dense and in brother lesion are situated over nose and around medial canthus.
Figure 1: Trichoepithelioma over nose, forehead and perinasal area

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Figure 2: Trichoepithelioma in mother, patient and brother from right to left respectively

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On laboratory investigation, no significant abnormality was found on blood examination. Furthermore, both had normal cardiovascular, neuronal and skeletal examination.

Pedigree chart: Family tree chart showing affected family members (darkened circles and squares) [Figure 3].
Figure 3: Pedigree chart

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Histopathological examination showed the lobules of small, dark basaloid cells, with peripheral palisading surrounding a fully keratinized center and a fibrous cellular stroma suggestive of trichoepithelioma [Figure 4].
Figure 4: Palisade of basaloid cell with a fully keratinized center and surrounding cellular stroma on H and E, ×40

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  Discussion Top

Multiple familial trichoepitheliomas usually present between 10 and 20 years of age with multiple skin colored centrofacial papules. [2] It can increase in number and size, producing cosmetic disfigurement. The gene for MFT maps to chromosome 9p21 in a 4-cM region between interferon alpha and D9S126. [3] The  Brooke-Spiegler syndrome More Details inherited as autosomal dominant consists of multiple trichoepitheliomas, cylindromas and spiradenomas and gene mapped to chromosome 16q. [4] Mutation in cylindromatosis tumor suppressor gene may also give rise MFT. Malignant transformation of these lesions to basal cell carcinoma is very rare. Any suspicion of malignant change is indicated by rapid growth and ulceration in preexisting lesions. There are occasional reports of familial multiple trichoepitheliomas being associated with other disorders like, cerebrovascular accidents, basal cell carcinoma, malignant lymphoepithelial lesion of the parotid, but the significance of these is uncertain. [5],[6] The clinical differential diagnosis of multiple inherited facial papules includes those entities listed in [Table 1].
Table 1: Entities with multiple inherited facial papules

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In histopathology, trichoepithelioma should be differentiated from keratotic basal cell carcinoma by presence of well-formed horn cysts, papillary mesenchymal bodies and lack of high grade atypia and mitosis. Other histopathologic differential diagnosis included syringoma and microcystic adnexal carcinoma.

Treatment includes surgical excision, chemical cauterization, laser resurfacing, electro-surgery and dermabrasion. Recently, topical 5% imiquimod cream has been advocated as a useful treatment. [4] We are presenting this case due to familial incidence of disease. The presence of multiple facial papules requires biopsy for histological diagnosis and search for a possible family history. Systemic associations have been reported and need to be monitored by history, clinical examination and follow-up.

  References Top

Khandpur S, Ramam M. Skin Tumors. In: Valia RG, Valia AR, editors. IADVL Textbook of Dermatology. 3 rd ed. Mumbai: Bhalani Publishing House; 2008. p. 1504.  Back to cited text no. 1
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;142:782-3.  Back to cited text no. 2
Harada H, Hashimoto K, Ko MS. The gene for multiple familial trichoepithelioma maps to chromosome 9p21. J Invest Dermatol 1996;107:41-3. Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gürer MA, et al. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. J Invest Dermatol 2003;121:732-4.  Back to cited text no. 3
Pincus LB, McCalmont TH, Neuhaus IM, Kasper R, Oh DH. Basal cell carcinomas arising within multiple trichoepitheliomas. J Cutan Pathol 2008;35 Suppl 1:59-64.  Back to cited text no. 4
Inatomi Y, Yonehara T, Fujioka S, Urata J, Ohyama K, Uchino M. Familial multiple trichoepithelioma associated with subclavian-pulmonary collateral vessels and cerebral aneurysm - Case report. Neurol Med Chir (Tokyo) 2001;41:556-60.  Back to cited text no. 5
Autio-Harmainen H, Pääkkö P, Alavaikko M, Karvonen J, Leisti J. Familial occurrence of malignant lymphoepithelial lesion of the parotid gland in a Finnish family with dominantly inherited trichoepithelioma. Cancer 1988;61:161-6.  Back to cited text no. 6


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

  [Table 1]


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