Track

Case Reports

Abstract

 Giant cell collagenoma (GCC), also known as multinucleate cell collagenoma, is a variant of sclerotic fibroma characterized by the presence of interstitial multinucleate giant cells within what is otherwise a typical sclerotic fibroma. While sclerotic fibroma has long been known to be associated with Cowden syndrome (CS), giant cell collagenoma has not been. Based on the lack of observed association, and immunohistochemical and ultrastructural features, giant cell collagenoma has been considered to be a separate entity by some. However, two recent reports of GCC occurring in patients with CS supports the concept of GCC and SF as variants of the same entity. CS, also known as multiple hamartoma and neoplasia syndrome, is an inherited, autosomal dominant, disorder caused by a mutation in the PTEN gene. Patients with CS develop multiple hamartomatous lesions with malignant potential, especially in the breast and thyroid. Mucocutaneous lesions in CS include trichilemomma, sclerotic fibroma (or storiform collagenoma), oral papillomas, acral keratoses, and punctate palmoplantar keratoses. A 65 year-old woman with CS presented with two well-circumscribed exophytic skin-colored papules – located on the right palm and chest. Two shave biopsy specimens revealed prominent sclerotic dermal collagen in a storiform pattern with small, stellate, spindle-shaped cells, and admixed multinucleate giant cells with scalloped borders, typical of giant cell collagenoma.  This case adds to recent observations of giant cell collagenoma’s association with Cowden syndrome in some patients, supporting giant cell collagenoma as a variant of sclerotic fibroma.