In a retrospective cohort of 32 Japanese patients meeting the Kimonis criteria for Gorlin syndrome, eight had documented CNS, cranial, or cerebrovascular conditions beyond those criteria (e.g., hydrocephalus, Chiari malformation, syringomyelia, moyamoya disease, cerebral infarction), which may warrant consideration when new neurological, respiratory, or craniocervical symptoms arise but do not establish a unified neurological phenotype, a causal relationship, or a need for universal neuroimaging in asymptomatic patients.
A PTCH1 sequence variant or whole-gene deletion was documented in 24 of 32 patients who fulfilled the Kimonis clinical criteria.
Eight of 32 patients had documented CNS, cranial, or cerebrovascular conditions beyond the Kimonis criteria, comprising 10 findings representing eight distinct conditions.
Four patients underwent neurosurgical or cerebrovascular interventions for these conditions.
The findings arose from routine clinical care rather than systematic neuroimaging screening and therefore cannot be interpreted as a prevalence estimate.
The authors conclude that awareness of these conditions may inform symptom-directed differential diagnosis and the choice of imaging modality and anatomical coverage.
Gorlin syndrome is a genetic condition, usually caused by changes in the PTCH1 gene, that affects many body systems and raises cancer risk. Doctors diagnose it using a set of established features called the Kimonis criteria, but other brain, skull, and blood-vessel problems that are not part of those criteria have not been well described. This study reviewed the records of 32 patients in Japan who met the criteria. A PTCH1 variant or gene deletion was documented in 24 of them. Eight patients had additional conditions affecting the brain, skull, or blood vessels. In total there were 10 findings representing eight conditions, including hydrocephalus (fluid build-up in the brain), Chiari malformation, syringomyelia (a fluid-filled cavity in the spinal cord), moyamoya disease (a narrowing of brain arteries), and cerebral infarction (stroke). Four patients needed neurosurgical or blood-vessel procedures. The authors stress important limits. These conditions were found during ordinary care, not through systematic brain scans of everyone, so the numbers cannot show how common they are. The study also cannot show that Gorlin syndrome causes them, or that they form a single pattern. This research suggests that clinicians may want to keep these conditions in mind when a patient with Gorlin syndrome develops new neurological, breathing, or head-and-neck symptoms. It does not support routine brain scanning in people without symptoms.
Arahata Y, Fujii K, Sawada D, Uchida T, Yaga T, Shiohama T. (2026). Central nervous system, cranial, and cerebrovascular conditions beyond the Kimonis criteria in patients with Gorlin syndrome: a retrospective cohort study.. Frontiers in neurology. https://doi.org/10.3389/fneur.2026.1935340