Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment

Head and neck cutaneous basal cell carcinoma: what should the otorhinolaryngology head and neck surgeon care about?

“…Several genetic syndromes should be suspected when multiple cBCC are present, especially at younger ages. Although rare, the most common syndrome is BCNS, also known as Gorlin syndrome, which is an inherited autosomal dominant disorder associated with mutations in the SHH pathway, and specifically in the PTCH1, PTCH2, and SUFU genes 73 . Constitutive activation of the SHH pathway may act synergistically with changes in the p53 pathway.…”

Infantile-onset palmo-plantar basal cell carcinomas and pits in Gorlin syndrome

“… 3 This case supports this hypothesis. Furthermore, this case suggests that palmo-plantar pits, traditionally known to appear in the second decade of life, 4 may also be considered an initial manifestation of NBCCS.…”

Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature

“…Major diagnostic findings in Gorlin–Goltz syndrome include development of multiple basal cell carcinomas, jaw odontogenic keratocysts, palmar and plantar pits and calcifications of the falx cerebri. Minor findings reported with this syndrome include macrocephaly, frontal bossing, bifid or extra ribs, bifid or fused vertebra, cleft lip, polydactyly, cardiac or ovarian fibromas, and medulloblastomas [ 2 , 3 ]. Mutations of the PTCH-1 gene on chromosome 9q22.3 are believed to be at the molecular origin of this syndrome's pathology; mutations on SUFU-1 or PTCH-2 genes are less commonly encountered [ 2 ].…”

“…Apart from the latter, other neurological findings have been reported in some patients such as macrocephaly, congenital hydrocephalus, bridging of the sella turcica, meningioma and medulloblastoma [ 2 ]. It may also be associated with epilepsy although this has not been well described [ [3] , [4] , [5] , [6] , [7] ]. The limited number of publications on this topic describe variable seizure semiology (apneic spells, infantile spasms, focal unaware seizures and generalized tonico-clonic seizures) and treatment modalities (from various antiseizure drugs to epilepsy surgery).…”