Gorlin syndrome is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, developmental abnormalities, and a predisposition to various tumors. This case study illustrates the clinical presentation, diagnostic challenges, and multidisciplinary approach of Gorlin syndrome in an adult Filipino patient.

Our case is a 47-year-old Filipino female with a 20-year history of progressive, generalized, numerous hyperpigmented to brownish-black patches and plaques. She is a 4.5-pack-year smoker with a history of intermittent sun exposure for 10-12 hours per week and denied any childhood sunburn and no use of sun protection. Physical examination shows generalized involvement with multiple well-defined dark brown patches and plaques. Dermoscopy findings showed maple leaf-like, spoke wheel structures, blue-grey ovoid nests, and microulceration. Skin punch biopsy was consistent with Basal Cell Carcinoma, Superficial type. There is the presence of skin-colored multiple depressions or pits on palms and soles, with some areas coalescing into a plaque. Gorlin Syndrome is diagnosed clinically and our patient fulfills two major criteria: Multiple Basal Cell carcinomas and palmoplantar pits, confirming the diagnosis. The family was also counseled regarding hereditary transmission. The patient’s daughter also presented with palmar pits, multiple odontogenic keratocysts, and ophthalmologic abnormalities such as hypertelorism, which also confirms the diagnosis of Gorlin syndrome.

Raising awareness and providing easy access to healthcare resources for adult patients with GS are crucial steps for better patient outcomes.

Human ; Female ; Middle Aged: 45-64 Yrs Old ; Tumors ; Neoplasms