Gorlin, syndrome

[MIM 109 400]

(Multiple basal Cell Nevi Syndrome)

The prevalence is estimated at 1-9/100,000. Phakomatosis. Autosomal dominant transmission of a mutation in the PTCH1 gene on 9q 22.3-q31; more rarely cases, a mutation of the PTCH2 gene with less severe phenotype. 

Association of developmental anomalies and a predisposition to developing certain cancers.

Clinical features:

-         focal hypoplasia of the dermis predisposing to the development of multiple basal  cell carcinoma (from the age of 20 years), 

-         oropharyngeal defects: microdontia,  recurrent odontogenic cysts, oropharyngeal papillomas 

-         craniofacial anomalies: macrocephaly, present at birth and then facial dysmorphism with: chubby face, coarse features, prominent frontal bossing, hypertelorism 

-         intracranial ectopic calcifications in the falx cerebri (65%); sometimes agenesis of the corpus callosum

-         sometimes an empty sella turcica 

-         skeletal abnormalities: bifid or fused, ribs, kyphosis, scoliosis, syndactyly, polydactyly

-         palmar hyperkeratosis with palmo-plantar pits

-         myocardial fibromas (present from the neonatal period, remaining stable but which can be a source of arrhythmias or heart failure when they are located near a valve) or ovarian problems (after puberty)

-         and 5 to 10% of patients develop medulloblastoma (cause of early death) the histology of which is desmoplasic.



Avoid radiotherapy because it increases the risk of basal cell carcinomas in the irradiated zone.

Diagnostic criteria: the diagnosis is made if there are 2 major criteria or one major and two minor criteria (see table).

Treatment: clinical surveillance, protection from the U.V.,  early removal of tumours, clinical trials with vismodegib.


  Major criteria
  1. more than 2 basal cell carcinomas or a basal cell carcinoma before the age of20 years
  2. odontogenic keratocysts of the jaw
  3. at least 3 palmar pits
  4. bilamellar  calcifications of the falx cerebri 
  5. bifid, fused or spread out ribs
  6. 1st degree relative affected by the syndrome

  Minor criteria
  1. macrocephaly
  2. congenital malformations: cleft lip or palate, bossing, hypertelorism, coarse features
  3. other skeletal abnormalities: Sprengel deformation of shoulder blades, chest deformation, syndactyly
  4.  RX anomalies: bridged sella turcica , hemivertebrae, vertebral body fusion, anomalies of the hands and feet, anomalies of the phalanges (edging in "flame")
  5. ovarian fibroma
  6. medulloblastoma (especially if desmoplasic)


Anesthetic implications: 

ECG and echocardiography; difficult access to the subclavian in case of anomaly of the clavicles; oropharyngeal (odontogenic cysts) lesions, which can make the  intubation difficult or weaken the jaw; neuraxial block can be difficult in case of spinal malformation; in case of empty sella turcica, check endocrine status.


References : 

-        Abadie C, Gauthier-Villars M, Sirvent N, Coupier I. 
Oncogénétique en oncopédiatrie. 
Arch Pédiatr 2012 ; 19 :863-75.

-         Gosavi K, Mundada SD. 
Anaesthetic management in Gorlin-Goltz syndrome. 
Indian J Anaesth 2012 ; 56 : 394-6.

-        Fujii K, Miyashita T. 
Gorlin syndrome (nevoid basal cell carcinoma syndrome) : update and literature review. 
Pediatr Int 2014 ; 56 : 667-74.


Updated: June 2023