Facial Papules and Nodules in a Woman: What's Your Diagnosis?

Heidi M. Hermes, MD; Nazanin Saedi, MD; Jeffrey S. Dover, MD

Disclosures

July 23, 2013

Diagnosis

Brooke-Spiegler syndrome (OMIM# 605041) is an autosomal dominant syndrome linked to mutations in the CYLD1 gene on chromosome 16. The appearance of patients with Brooke-Spiegler syndrome is characterized by the development of multiple benign adnexal neoplasms, including spiradenomas, cylindromas, and trichoepitheliomas on the scalp, face, and neck. Familial cylindromatosis (OMIM# 132700) and multiple familial trichoepithelioma (OMIM# 601606) are allelic genodermatoses with overlapping clinical features.[1]

The onset of tumors typically begins in early adulthood, starting in the second or third decade. The course is progressive as patients develop tens to hundreds of these neoplasms. Cylindromas have a predilection for the scalp and may coalesce into large areas of alopecia, the so-called "turban tumor." [2] Histopathology of cylindromas reveals well-defined basaloid aggregates in the dermis, arranged in a jigsaw puzzle pattern. Trichoepitheliomas occur most commonly on the face, with a predilection for the nasolabial folds. Histology consists of cords of monomorphous basaloid cells, sometimes forming papillary mesenchymal bodies (rudimentary hair follicles), surrounded by a dense fibrotic stroma.[3] These multiple tumors are often painful and cosmetically distressing. Fortunately, malignant transformation is rare, but several cases have been described.[4] Parotid adenomas are an infrequent but known extracutaneous manifestation of Brooke-Spiegler syndrome.[5]

Various treatment modalities have been described for patients with Brooke-Spiegler syndrome. Individual or agminated tumors are amenable to excision,[6] but this can be tedious in patients with numerous lesions. Noninvasive modalities include ablative and nonablative fractional resurfacing, dermabrasion, photodynamic therapy, and topical therapy with imiquimod.[7] Ultimately, the treatment should be individualized to each patient on the basis of tumor burden, symptoms (such as pain), and goals for cosmesis.

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