Connective tissue nevi: A case report of a uniquely presenting eyelid collagenoma

The purpose of this article is to report a unique clinical presentation of an eyelid collagenoma. Additionally, we review connective tissue nevi as a whole and describe the spectrum of collagenoma variants in relation to their specific syndromic associations.

A 71-year-old female with a past medical history of cataract extraction, and remote amblyopia requiring patching presented to ophthalmology clinic with a chief complaint of an asymptomatic orbital lesion persistent over the last two years. Physical exam revealed a 0.5 cm tan-purple erythematous left upper eyelid papule with associated mild ipsilateral ptosis. Eye exam demonstrated 20/25 vision bilaterally. The patient opted for surgical excision of the lesion. Intraoperatively the lesion was found to be adherent to the overlying skin and underlying tarsal plate. Thus, the lesion was resected en bloc and required orbicularis muscle repair. Post-operative follow-up exam eight days after the initial procedure demonstrated a well-apposed linear scar site with minimal ecchymosis. The patient ultimately healed without complication. Based upon clinical features including shape, color, and external vascularity the lesion was initially favored to be a benign hemangioma. However, subsequent tissue diagnosis instead revealed the lesion to be a benign collagenoma.

While uncommon, benign connective tissue nevi including collagenomas can present as a single or rarely multiple facial lesion(s). Collagenomas can occur sporadically or as part of a genetic syndrome. Unique clinical presentations of collagenoma(s) may be a subtle indication of an underlying syndrome. Thus, the clinical features that are most important to assess on physical exam include the lesion focality (i.e., single vs. multi-focal), location of the lesion(s), and dermatologic configuration (i.e., papular or nodular vs. plaque-like vs. cerebriform etc.). Of note, while typically tan-pink in color on physical exam, collagenomas may be erythematous, as in our case, and can thus be mistaken for vascular lesions. Collagenomas are non-cystic in nature and thus from our experience do not appear to be amenable to surgical marsupialization. Lastly, if biopsy is pursued, an accurate diagnosis of collagenoma is important due to the aforementioned potential syndromic implications as well as a minimal though non-zero risk of recurrence.