Gorlin Goltz syndrome, also known as basal cell nevus syndrome, is a rare genetic disorder caused by a mutation in the PTCH gene. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts of the jaws, skeletal abnormalities such as bifid ribs and calcification of the falx cerebri. The incidence varies from 1 in 57,000 to 1 in 256,000. Management requires a multidisciplinary team and focuses on complete surgical removal of odontogenic keratocysts, orthodontic treatment to preserve dental and facial structure, and genetic counseling due to its autosomal dominant inheritance.

1. Gorlin Goltz syndrome
Definition
• Also known as basal cell neavus syndrome, basal epithelioma, jaw cysts and bifid ribs syndrome
• A large proportion of babies with Gorlin Syndrome require delivery by Caesarian Section because of the
large head size.
Incidence
• Varies from 1 in 57,000 to 1 in 256,000.
• The incidence varies according to the country. Lower prevalence in England and higher in Italy, Australia due
to sunlight exposure
• Affects different racial groups
• Affects M &F
Aeitology
• Genetic- autosominal dominant inherited
• 50% of patients do not know if any family member has it
• Gorlin Goltz occurs due to a mutation in Tumour suppressor gene called Patched (PTCH) located n the
9q22.3 chromosome has been identifies as the cause.
Clinical Features
Skeletal
Bridging of sella turica
Bifid rib
Absent rib
Hand abnormalities
Flat foot
Craniofacial
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2. Calcification of the cerebral falx 37-79% (sicle cell shaped
fold of dura mater in the fissure between the two
cerebral hemispheres)
Macrocephaly- the head appears large >60cm
Frontal bossing 25% - makes the eyes look sunken
Eyebrows high arched
Mandibular prorgnathism
Dental
• Cleft lip and palate (4%)]
• High arched palate
• Impacted teeth
• Class 3
• Ameloblastoma
• Fibrosarcoma of the jaws
Eyes
• Hypertelorism (40%) (increased distance
between the eyes)
• Ptosis
• Microopthalimia
• Congential cataract
• Congential blindness
Skin
• Basal cell carcinoma (50-97%) – can appear from
2 years. Most often proliferate through puberty.
Associated with sun exposure. Can look like skin
tags
• BCC found on head, neck, back, chest. After
puberty they can become aggressive and invade
locally. Radiation therapy causes proliferation of
BCC
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3. • Palmer and plantar pits (60%)
Nervous system
• Mental retardation
• Nervous deafness
• Schizophrenic personality
• Medulloblastoma 5%
• Menginioma 1%
• Congential hydrocephalus
Sexual abnormalities
Uterine and ovarian fribromas 15%
Ovarian firbrosarcoma
Calcfied ovarian cyst
Supernumerary nipple
Hypodonadism – scanty facial hai in males
Odontogenic keratocyst
Multiple cysts of the maxilla and mandible
Usually appear age 15 years
Mandibular cysts x3 common
Peak during 20s and 30s and continue to appear through out life
Cysts rarely cause symptoms – displace teeth, fracture jaw, 50% present with swelling, 25% have mild pain. They
rarely perforate the cortex into ST. Can invade the sinus in the maxilla.
60% reoccur after surgery – due to incomplete removal, retention of stallite cells, proliferation of the basal cell
epithelium
From the dental lamina
Radiographic
• Multilocular
• Parakeratinised stratified squamous epithelium consisting of 5-8 cells with palisaded nucleui but no rete
ridges
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4. Management
• Orthodontics can play a role in diagnosis by identifies cysts from plain films
• MDT care
• Genetic councilling – 50% chance of passing on the syndrome to child
• Presever teeth and facial profile by trying to bring as many teeth in to the arch as possible
• Referal to Max fac for complete enucleation of keratocyst
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