Abstract
Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious pathological outcomes, strategies followed in the diagnosis including histopathological evaluation aided by immunohistochemical investigations, and subsequent challenges that may be faced in the management of MFT in light of the presentation with multiple facial papules are documented in this case report.
Highlights
Trichoepithelial tumours are a group of benign, follicular, epithelial-stromal tumours, classified as classic trichoepitheliomas, trichoblastomas, trichoadenomas, and desmoplastic trichoepitheliomas [1]
Familial cylindromatosis (FC) and Multiple familial trichoepithelioma (MFT) are accounted to represent two ends within the spectrum of Brooke-Spiegler syndrome [10], but the patient presented in this case report did not present with spiradenomas which are purple to bluish nodules that are paroxysmally painful when symptomatic, usually located on the trunk and extremities, and cylindromas which are slow-growing tumours that typically occur on the scalp
Diagnosis is based on family history, clinical examination, and histopathological evaluation which is essential to exclude serious underlying pathological conditions
Summary
Trichoepithelial tumours are a group of benign, follicular, epithelial-stromal tumours, classified as classic trichoepitheliomas, trichoblastomas, trichoadenomas, and desmoplastic trichoepitheliomas [1]. Lesions are often roughly symmetrical in shape and distribution and increase in size and number with age, producing a significant cosmetic disfigurement They may coalesce to form large lesions, become so thickly grouped together as to form raised lumpy patches of a disfiguring leonine facies [8], or may slowly enlarge to a maximum diameter of 0.5 cm and rarely ulcerate at late stages [1, 2, 8, 9]. This case report describes a patient who presented with multiple facial papules and with a family history of the same condition from a first-degree relative, diagnosed as MFT. The clinical differential diagnoses and histological diagnostic dilemma associated with the presentation as asymptomatic, multiple facial papules and therapeutic challenges will be discussed in this case report
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