Title : Multiple pigmented basal cell carcinomas in a young adult: A rare presentation of Gorlin Syndrome
Abstract:
Background: Gorlin syndrome, or nevoid basal cell carcinoma syndrome, is an autosomal dominant genodermatosis characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar or plantar pits, and various skeletal and craniofacial abnormalities. Recognition of its cutaneous manifestations is important for early diagnosis and surveillance of associated systemic complications.
Case Report: A 34-year-old man presented with multiple asymptomatic, hyperpigmented plaques and papules over the face and trunk for approximately 2 years. A large pigmented, centrally ulcerated plaque was present over the left cheek near the angle of the jaw. Multiple palmar pits and scattered hyperpigmented lesions were noted on examination. Biopsy specimens from the cheek, face, and trunk demonstrated nests and strands of basaloid cells with peripheral palisading and retraction clefting, with focal pigmentation, consistent with basal cell carcinoma. Computed tomography of the face revealed a superficial neoplastic lesion over the left buccal region and multiple lytic lesions involving both halves of the mandibular body. A positive family history of similar lesions in the patient's father was elicited. The combination of multiple BCCs, palmar pits, a positive first-degree family history, and mandibular lesions raised strong suspicion of Gorlin syndrome.
Conclusion: Multiple pigmented BCCs in a relatively young individual should prompt evaluation for an underlying genodermatosis. Careful examination for palmar pits, characteristic craniofacial features, family history, and jaw abnormalities can facilitate recognition of Gorlin syndrome and enable appropriate multidisciplinary surveillance.
