Indian Journal of Paediatric Dermatology

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

Familial trichoepithelioma


Ramesh Kumar, Prafull Mehta, Manali Jain, Devendra Yadav, Suresh Kumar Jain 
 Department of Dermatology, Venereology, and Leprology, Government Medical College, Kota, Rajasthan, India

Correspondence Address:
Suresh Kumar Jain
Department of Dermatology, Venereology, and Leprology, Government Medical College, Kota - 324 001, Rajasthan
India

Abstract

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«SQ»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.



How to cite this article:
Kumar R, Mehta P, Jain M, Yadav D, Jain SK. Familial trichoepithelioma.Indian J Paediatr Dermatol 2015;16:105-107


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 2020 Oct 24 ];16:105-107
Available from: https://www.ijpd.in/text.asp?2015/16/2/105/152136


Full Text

 INTRODUCTION



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



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}{Figure 2}

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}

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}

 DISCUSSION



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 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}

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

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