Multiple Skin Cysts in Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review of the Literature

Abstract

We report a 72-year-old man with nevoid basal cell carcinoma syndrome (NBCCS) who presented with 25 skin cysts on his trunk and extremities. Fourteen of 25 skin cysts (56%) were observed on his hands. Histological examination demonstrated that most of the excised cysts had an epithelial wall with typical epidermal keratinization. However, 4 skin cysts (4/16; 25%) showed a corrugated or festooned inner surface of wall without a granular cell layer, which resembled an odontogenic keratocyst, a characteristic feature of skin cysts in NBCCS. A review of the literature suggested that acral localization of skin cysts is a distinctive feature of NBCCS. In addition, the histological findings of skin cysts resembling an odontogenic keratocyst might be a hallmark of NBCCS.

Gorlin Syndrome: A Comprehensive Evaluation of Skin Findings

“… 22 , 37 , 39 , 40 In a minority of patients with Gorlin syndrome, epidermoid cysts may be multiple up to 25 lesions in 1 patient previously reported. 46 Clinically, a visible central blackhead-like punctum which is common in sporadic epidermoid cysts was not present in any epidermoid cysts of our patients with Gorlin syndrome. This finding has been emphasized only in 2 patients previously, to the best of our knowledge.…”

“…In some previous reports, cutaneous cysts in Gorlin syndrome were stated as keratocysts due to the similar histopathological appearance of OKCs, supporting the possibility that they could be another cutaneous marker for this genodermatosis. 37 , 38 , 42 , 43 , 46 , 47 In another study investigating 23 epidermoid cysts in Gorlin syndrome, no differences were recorded between lesions in palmoplantar and other anatomic locations regarding histologic and immunohistochemical characteristics. 41 Remarkably, epidermoid cysts were also recorded on the palpebral conjunctiva of upper eyelid in one of our adult patients, which has rarely been reported previously.…”