[Histopathological study of basaloid follicular hamartoma]

Abstract

Introduction: Basaloid follicular hamartoma (BFH) is a rare tumor first described in 1985. It bears clinical and histologic similarities with basal cell carcinoma (BCC), in particular the so-called infundibulocystic form. We performed a single-center clinicopathological study of a series of typical cases of this entity that is occasionally difficult to diagnose.

Materials and methods: All cases of BFH seen at the Dermatopathology Laboratory of Strasbourg University Hospital were included and analyzed by means of HE staining and Ber-EP4 and PHLDA1 immunolabelling. Diagnosis was made in the event of basaloid proliferation with anastomosing cords developed from a hair follicle. Clinical data were collected from clinical files.

Results: We identified 15 cases in 13 patients of mean age 44.8 years (range: 4 to 90) and the sex-ratio was 5/8. Lesions consisted of flesh-colored papules measuring 0.3 to 1.2cm in diameter, without any preferential site. Three patients had multiple lesions consisting of several coalescent papules on a breast for one, sparse papules on the back for another, and hundreds of linear unilateral BFHs, associated with osseous abnormalities, characteristic of Happle-Tinschert syndrome, for the third. All tumors were limited to the superficial and mid dermis, with a vertical orientation and connection to the epidermis in 14 of the 15 patients. In some cases, the outermost cells were basophilic while the central cells were eosinophilic. Peripheral palisading and clefting were frequently observed. Keratin cysts or sebaceous ducts were consistently present, indicating follicular differentiation. Ber-EP4+ cells were restricted to the periphery of the cords and PHLDA1 was weakly expressed.

Discussion: BFH is a rare entity that must be differentiated from BCC. It presents as solitary or multiple lesions, either grouped in plaques or with a generalized or linear unilateral distribution. Generalized BFH may be associated with autoimmune diseases and linear unilateral BFH with osseous, dental and cerebral abnormalities in Happle-Tinschert syndrome. It is important to distinguish BFH from BCC to avoid inappropriate aggressive treatment.

Keywords: Basal cell nevus; Basaloid follicular hamartoma; Carcinome basocellulaire infundibulo-kystique; Gorlin syndrome; Hamartome folliculaire basaloïde; Happle-Tinschert syndrome; Infundibulocystic basal cell carcinoma; Nævus basocellulaire; Syndrome d’Happle-Tinschert; syndrome de Gorlin.