Clinical manifestations include mostly basal cell carcinomas,
which appear mostly between puberty and 35 years of age; odontogenic keratocysts that generally develop in the first,
second and third decades ; palmar and/or plantar pits and ectopic calcifications of the falx cerebri.
Many different symptoms and findings may be associated with Gorlin-Goltz syndrome.
Gorlin-Goltz syndrome clinical manifestations
Skin
|
Benign dermal cysts
|
Multiple nevi
|
Multiple basal cell carcinomas (in white patients %90,
in blacks %40)
|
Palmo-plantar pits (%90) |
|
Central nervous system
|
Ectopic calcification:
- falx cerebri (%70-85)
- tentorium cerebelli (%20-40)
- petroclinoid ligaments (%20)
- complete or partial bony bridging of the sella turcica (%25)
|
Meningioma
|
Medulloblastoma (%1-2)
|
Glioblostoma
|
Mental retardation
|
Grand mal epilepsy
|
Hydrocephalus
|
|
|
Stomatologic system
|
Odontogenic keratocysts (%90)
|
Dental ectopy,
heterotopy
|
Impacted teeth
|
Malocclusion
|
Cleft palate and lip
|
High-arched palate
|
Mandibular prognathism
|
Malignencies(Maxillary Fibrosarcoma,
Odontogenic Myxoma,
Amelobastoma)
|
Skeletal open bite
|
Ocular system
|
Cataract
|
Coloboma
|
Microphthalmia
|
Hypertelorism (%70)
|
Chalazions
|
Exophthalmus
|
Internal strabismus
|
Rotatory nistagmus
|
Congenital blindness
|
Musculo-skeletal system
|
Bifid,
fused,
splayed,
or missing ribs (%30-60)
|
Bifid,
wedges,
fused vertebra
|
Scoliosis (%40)
|
Frontal bossing (%25)
|
Polydactyly,
sindactyly
|
Shortened 4th metarcapal
|
Sprengel deformity (%10-40)
|
Polyostotic bone cysts
|
Cardio-vascular system
|
Cardiac fibroma (%3-5)
|
Absent internal carotid artery
|
Genito-urinary system
|
Males:
Hypogonadism
Cryptorchidism
|
Females:
Ovarian calcifications
Ovarian cysts (%25-50)
Ovarian fibroma (%25-50)
Hypogonadism
|
Auditory system (rare)
|
Otosclerosis
|
Conductive hearing loss
|
Respiratory system (rare)
|
Bronchogenic cysts
|
Hyaline membrane disease
|
Gastro-enteric system (rare)
|
Mesenteryc cysts
|
Gastric polyps
|
To make the final diagnosis,
either 2 major or 1 major and 2 minor criteria must be together.
Major criteria
1-Basal cell carcinoma:> 2 or 1 under the age 20
2-Odontogenic keratocysts
3-Palmar pitting: 3 or more
4-Falx cerebri calcification
5-Rib anomalies: bifid rib ,fused,
splayed
6-First degree relative with Gorlin syndrome
Minor criteria
1-Macrocephaly
2-Frontal bossing,
cleft lip or hypertelorism
3-Sprengel deformity,
pectus excavatum or pectus carinatum,
syndactyly
4-Bridging of the sella turcica,
hemivertebrae,
flame shaped osseous radiolucencies
5-Ovarian fibroma
6-Medulloblastoma
Diagnostic protocols in Gorlin-Goltz Syndrome.
- Family history
- Physical examinations
- Genetic testing
- Imaging
- Chest X-ray (for rib anomalies)
- A.P.
and lateral skull X-ray (for ectopic calfications)
- Panoramic radiograph (for jaw cysts)
- Cervical and thoracic spine – A.P.
and lateral X-ray (for vertebral anomalies,
scoliosis and sprengel deformity)
- Hands X-ray(for shortened 4th metacarpal and flame shaped lucencies)
- Pelvic ultrasound for ovarian fibroma
- Echocardiogram for cardiac fibroma
Differential diagnosis
Differential diagnosis includes some rare dermatological syndromes,
such as Bazex syndrome (characterized by basal-cell carcinoma associated with hypotrichosis,
hypohidrosis,
milia and folliculare atrophodermia),
trichoepithelioma papulosum multiplex or Muir-Torre's syndrome.