Pigmented basal cell carcinomas in Gorlin syndrome: two cases with different dermatoscopic patterns

Area of Science:

• Dermatology
• Genetics
• Oncology

Background:

• Gorlin syndrome (GS) is a rare genetic disorder characterized by an increased risk of various cancers, particularly basal cell carcinomas (BCCs).
• Typical manifestations include multiple BCCs, keratocysts, skeletal abnormalities, and palmar pits.
• Previous reports have primarily focused on Caucasian patients with non-pigmented BCCs.

Observation:

• Two nonconsanguineous white patients presented with multiple pigmented basal cell carcinomas (BCCs).
• Both patients exhibited characteristic features of Gorlin syndrome, including calcification of the cerebral falx, keratocysts, and palmar pits.
• Distinct dermatoscopic patterns were observed: patient 1 showed bluish globules, while patient 2 displayed blue ovoid globules, arborizing vessels, and spoke-wheel/maple leaf patterns.

Findings:

• Histopathological confirmation of multiple pigmented BCCs in both patients.
• Diagnosis of Gorlin syndrome (GS) based on clinical and radiological features.
• Novel observation of pigmented BCCs as the primary cutaneous manifestation in white patients with GS.
• Unique dermatoscopic findings, including the first reported spoked-wheel pattern in a patient with GS.

Implications:

• This case series expands the understanding of Gorlin syndrome's phenotypic variability, particularly in white populations.
• Highlights the importance of considering pigmented BCCs in the differential diagnosis of Gorlin syndrome.
• Emphasizes the utility of dermatoscopy in characterizing BCCs associated with Gorlin syndrome and potentially aiding in early diagnosis.
• Suggests further research into the genetic and dermatoscopic variations within Gorlin syndrome.