Gorlin Syndrome: A Series of 10 Patients. Diagnosis, Follow-up, and Treatment from the Dermatological Consultation

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ID: 318093
2026
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Abstract
Abstract Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a hereditary disorder characterized by a predisposition to the development of multiple neoplasms and developmental anomalies. While rare in our clinical setting, it is crucial to recognize this entity for accurate early diagnosis, multidisciplinary follow-up, and effective treatment, given the high recurrence rate of its lesions. The principal clinical manifestations include basal cell carcinomas, palmoplantar pits, and odontogenic cysts. Diagnosis is based on specific clinical criteria and confirmed through analysis of pathogenic variants in the PTCH1 or SUFU genes, which are components of the Sonic Hedgehog molecular pathway. This study presents a series of 10 patients meeting the clinical criteria for Gorlin syndrome, who underwent genetic testing to confirm the diagnosis. The frequency and therapeutic management of the main dermatological manifestations are analyzed, and an algorithm is proposed for managing patients diagnosed with Gorlin syndrome from dermatology or maxillofacial surgery consultations.
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Authors Antonio Pereira-González, Guillermo Moreno-Casas, Carmen Ruiz‐Iglesias, José Javier Márquez-Rojas, Basilo Narváez-Moreno, Isabel Rodríguez‐Nevado, A.J. Chaves-Álvarez, Francisco Peral-Rubio, Marta Torres-Díaz, Enrique Galán‐Gómez
Journal clinical and experimental dermatology
Year 2026
DOI
10.1093/ced/llag265
URL
https://doi.org/10.1093/ced/llag265
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