Basal cell nevus syndrome is not a common disorder. It has an estimated prevalence of 1 in 57,000-164,000 persons.1,2 It presents as a spectrum of phenotypic abnormalities that include developmental anomalies and postnatal tumors, particularly basal cell carcinomas. More than 100 clinical abnormalities have been reported in patients with basal cell nevus syndrome. The most typical features include: (1) basal cell carcinomas; (2) palmar and/or plantar pits; and (3) odontogenic cysts of the jaw. Early diagnosis of basal cell nevus syndrome is imperative to prevent developmental delay and increased risk for physical impairment.
This case involves a 48-year-old Filipino male who showed multiple well-defined hyperpigmented gray-black papules and nodules on the scalp, face, trunk, and back. Pertinent family history revealed three family members with multiple biopsy-proven basal cell carcinomas. On physical examination, the patient was noted to have frontal bossing and multiple palmar and plantar pits. Dermoscopy and skin punch biopsy of multiple sites were consistent with basal cell carcinoma, both superficial and nodular subtypes. Additional work-up included a panoramic x-ray of the jaw, which revealed a solitary odontogenic cyst on the left. A plain cranial MRI was also done, revealing thickened and hypointense falx cerebri suggestive of calcifications.
Based on the presence of multiple biopsy-proven basal cell carcinomas, multiple palmar and plantar pits, and the solitary odontogenic cyst, the patient was diagnosed with basal cell nevus syndrome. Other findings that aid in the diagnosis are the presence of frontal bossing and calcifications of the falx cerebri in the patient.