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Hereditary Basaloid Follicular Hamartoma Syndrome

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BFH is categorized within the spectrum of basaloid epithelial neoplasms associated with dysregulation of the PTCH signaling pathway.13 However, in general, BFH lesions show less mitotic figures and necrosis when compared with BCC.6,13 Immunohistochemistry results show CD34+ stromal cells in peritumoral distribution, resembling trichoepithelioma and distinguishing the condition from BCC, which lacks CD34 expression.14 Additional factors that distinguish BFH from BCC include BFH’s low proliferative index (ie, low Ki-67) and lack of bcl-2 expression.13,14

BFHS is a rare entity. It is a mainly histologic diagnosis with varied clinical presentations.6 Prognosis is good and treatment usually is cosmetic with shave, curette, or scissor methods most frequently reported.3 Because of the benign nature of this follicular tumor, observation without treatment is an option. It is important to be able to recognize this disease to avoid overaggressive surgical management and to closely monitor for any new tumors that may develop in these lesions.1 Monitoring and close follow-up of these lesions is necessary because some believe that familial BFHS is possibly a forme fruste of NBCS. Any indications of malignant changes in these lesions (eg, nonhealing and bleeding lesions, biopsy suggestive of BCC or other skin cancer) warrant surgical therapy. If lesions do not indicate malignant change, however, they may be removed for cosmetic reasons, but aggressive surgery, such as Mohs micrographic surgery, may put the patient at risk for unnecessary infection and increased morbidity.1

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