Frontiers in neurology
Central nervous system, cranial, and cerebrovascular conditions beyond the Kimonis criteria in patients with Gorlin syndrome: a retrospective cohort study
By Arahata Y, Fujii K, Sawada D and 3 others.
Abstract
Background
Gorlin syndrome is a multisystem developmental and cancer-predisposing disorder commonly caused by germline PTCH1 variants. The Kimonis clinical criteria capture the canonical phenotype; however, central nervous system (CNS), cranial, and cerebrovascular conditions documented beyond these criteria remain poorly defined.
Methods
We conducted a retrospective descriptive cohort study of 32 patients who fulfilled the Kimonis clinical criteria and received care at either or both hospitals in Japan. Clinical information through March 31, 2026, including sufficiently documented care elsewhere, was reviewed. The exploratory primary descriptive outcome was defined as the presence of at least one documented condition in three categories: structural CNS or cranial conditions, cerebrovascular disorders, or CNS neoplasms other than medulloblastoma. The three categories were considered separately.