Nevoid basal cell carcinoma syndrome with a novel PTCH1 variant: Genetic testing and literature review in a case report

Nevoid basal cell carcinoma syndrome is a rare autosomal dominant hereditary disorder characterized with almost complete penetrance and multiple clinical manifestations. A 31-year-old female presented with a 31-year history of black papules on her face, neck, trunk, and upper limbs. Over time, these lesions increased in size and number, demonstrating an invasive nature. Histopathological analysis of the skin lesions revealed basaloid cells arranged in a palisading pattern within the dermis and extensive basophilic changes in the superficial dermis. Whole-exome sequencing identified a somatic PTCH1 mutation c.3080G>A (p.Trp1027Ter), confirming the diagnosis of nevoid basal cell carcinoma syndrome. An integrated treatment approach was employed, including surgical interventions and carbon dioxide laser therapy. As nevoid basal cell carcinoma syndrome affects multiple organ systems, it requires multidisciplinary management. Understanding and recognizing the clinical presentations and underlying genetic mutations can provide insights into its pathogenesis and guide effective management strategies.