Several researches have reported the prevalence of the multiple signs and symptoms presented in Gorlin syndrome     . Certain features like palmar or plantar pits, skull deformities and other radiological results occur in childhood. These can be useful in making an early diagnosis  . A single patient may not present with all of the signs and symptoms, but a combination of some of them.
Basal cell carcinoma, a type of skin cancer is the most common presentation of Gorlin syndrome. They may appear as spots on the skin or as small growths or nodules which differ in number, from few to numerous. Variations in their size are seen from 1mm to 10mm or more. The basal cell carcinoma can encroach upon the local tissue causing related symptoms. Areas which are exposed to the sun are mainly affected, though the sun protected areas may also present with the cancer.
The age group which usually presents with basal cell carcinoma is from puberty to 35 years. Kimonis et al found that 50% of white individuals had their first BCC by age 21.5 years and 90% had it by age 35 years .
Keratocystic odontogenic tumors or odontogenic keratocytes or jaw cysts, are lumps or swellings in the jaw bone, especially the mandible. They develop in the first decade of life and their highest occurrences are in the second decade and often seen as recurring growths. They may rapidly grow in size causing pain, fractures of the maxilla and mandible and may also affect dental growth. It can lead to disfigurement of the face.
Patients may develop small pits on the palms (palmar pits) and on the soles of the feet (plantar pits). Some patients also develop multiple skin tags.
Patients with Gorlin suffer from Medulloblastoma i.e. malignant tumours of the cerebellum, mainly in childhood from birth to about 3 years of age. Patients may experience headaches which get better as the day passes, along with vomiting and imbalance. These tumours can spread to other parts of the nervous system. The occurrence ratio with respect to gender is 3:1 (male: female).
Approximately 90% patients suffer from calcification or hardening of some parts of the central nervous system by the second decade of life. Falx cerebri which consists of the dura mater is commonly affected.
Skeletal deformities and abnormalities which occur in patients with Gorlin syndrome include rib defects or dislocations, scoliosis, spina bifida, polydactyly , syndactyly (webbed fingers or toes) and Sprengel deformity (raised or underdeveloped scapula). Chest abnormalities are also seen in patients for example- a sunken chest or a protruded chest (pectus carinatum or excavatum respectively). As an after effect of spina bifida, some may suffer from hydrocephalus.
Patients may suffer from macrocephaly, frontal bossing, Hypertelorism (wide spaced eyes), facial milia (small white lumps on the skin below the eyes or over the forehead), cleft palate, cleft lip, microphthalmia, cataracts, nystagmus (rapid involuntary eye movement) or coloboma (partial absence of tissue from the iris or retina) etc. Strabismus i.e. crossed eyes may also be seen .
Cardiac fibromas develop in very few patients and especially in children. These may not present with any symptoms or may lead to arrhythmias or circulation obstruction.
Kiminois et al proposed major and minor criteria to diagnose the disease. These criteria also help in deciding the laboratory investigations that may be needed for the same. 2 major or 1 major and 2 minor criteria if present than the disease can be diagnosed as Gorlin syndrome.
Special imaging procedures are used to diagnose Gorlin syndrome. These can be MRI-Magnetic Resonance Imaging, USG-Ultrasound of the abdomen, X-ray of the skull, of the skeletal system, the jaw and teeth  . MRI can accurately report brain calcifications. Ovarian fibromas can be detected on USG. X-rays of the different parts of the body can help to find any abnormalities in the skeletal system. Dental radiographs can help in early detection of odontogenic keratocysts which can affect the jaw.
Echocardiogram is necessary in cases to detect cardiac fibromas if suspected.
Molecular genetic testing can detect gene mutations thus helping in early diagnosis of Gorlin syndrome.
Topical chemotherapy agents like imiquimod  and 5-fluorouracil are used to apply over the affected areas. These are usually used in combination with other therapies .
Photodynamic therapy includes application of topical agents that are activated by exposure to a specific light which causes tumour destruction  .
In a study in 2012, a drug called Vismodegib showed 70% decrease in new tumours and reduction in size of old ones. But other studies show recurrence of tumours after stopping treatment   and treatment related bad side-effects .
Most tumours may require surgical excision. Early detection and early treatment of tumours helps to prevent them from becoming invasive. Numerous tumours occur in patients with Gorlin syndrome. Hence, invasive surgical procedures are chosen for larger tumours while the small ones are first treated with topical therapies. Direct surgery involves excision of the tumours and then suturing the skin over that area.
Moh’s micrographic surgery is used to heal tumours of Gorlin syndrome which fail to improve after other treatments.
For single or small lesions, one may use cryotherapy which includes applying a freezing agent over the lesion to destroy the tissues and cells.
Another therapy used is electrodessication and curettage. In this, the lesion is scraped off and the remaining tissue is treated with heat using an electrosurgical needle.
All cases of Gorlin syndrome require long-term monitoring of the disease. Regular consultations with dermatologists, dentists and dental surgeons, cardiologists, ophthalmologists, neurologists, gynaecologists etc must be done.
Skin cancer and other tumours that develop in Gorlin syndrome are responsible for the mortality and morbidity of the patients. Medulloblastoma can lead to premature death. Complications can arise due to treatment methods like radiation therapy which can cause multiple basal cell carcinoma. For better prognosis treat skin lesions with chemoprevention. Vitamin A can help in stopping the growth of new skin cancer.
Gorlin syndrome is caused by mutations in PTCH gene (allele 1) located on the long arm (q) of chromosome 9 (9q22.3-q31). It is commonly an inherited disorder but may occur due to spontaneous new mutations in the gene (35-50% cases).
Ultra-violet (UV) light exposure is known to cause Basal Cell Carcinomas. Hence, parts exposed to sun are more likely to be affected with the cancer. Genetic researches about UV-related mutations in basal cell carcinoma report that causes other than UV-B may cause alterations to the gene . Basal cell carcinomas have been reported to develop in patients treated with radiation therapy for medulloblastoma. Areas previously exposed to radiation show rapid growth of this cancer.
The estimated prevalence of Gorlin syndrome is reported as 1 per 56,000 – 1, 64,000 population. The exact incidence may in fact be higher because many cases with mild symptoms go undetected. Gorlin syndrome is seen in all races and male to female ratio is almost equal (1:1.3).
Basal cell carcinoma (skin cancer) with Gorlin syndrome is seen more in the white population as compared to the black population. One survey estimating incidence in an African cohort found that only 20% people with Gorlin syndrome had basal cell carcinoma . Another Japanese study also reported a lower rate of Basal Cell Carcinoma compared with whites .
Gorlin syndrome is an autosomal dominant disorder. A single copy of the dominant mutated gene when inherited from a single parent can produce symptoms and signs of the disorder. This disorder presents with complete penetrance i.e. all those who inherit the mutated gene are affected with Gorlin syndrome and have variable expressivity i.e. patients present with wide variety of signs and symptoms.
Since it's a genetically transmitted disorder, there is no prevention available for Gorlin's syndrome.
Gorlin syndrome also called as Nevoid basal cell carcinoma is a genetic disorder which presents in the form of multi-organ abnormalities and a tendency to develop certain forms of cancer especially skin cancers. Its causes include genetic changes, either new or familial. It is an autosomal dominant disorder which means that only a single copy of the abnormal gene inherited form any one parent is enough to cause the disease. This indicates that all the people who inherit the dominant abnormal gene will develop the symptoms.
Also, patients suffering from Gorlin syndrome show extensively variable signs and symptoms. These include mainly Basal cell carcinoma i.e. lesion of skin cancer, keratocystic odontogenic tumors, small pits on the palms and soles, medulloblastomas i.e. malignant tumours of the cerebellum or calcification or hardening of some parts of the central nervous system. It may also involve skeletal deformities and abnormalities like curved spine, additional or webbed fingers or toes, raised or underdeveloped scapula or sunken or protruded chest, larger head circumference or a bulging forehead. Various eye related signs include wide spaced eyes, cataracts, rapid involuntary movements of the eyes, partial absence of tissue from the iris or retina or crossed eyes may also be seen. One may also develop different fibromas like ovarian, cardiac etc.
Investigations to detect the disorder include MRI scanning, X-rays of the entire skeletal system, Ultrasonography of the abdomen and dental radiographs. Molecular genetic testing facilitates early detection of the mutations of the genes. Biopsy of the lesions helps confirm skin cancers.
Treatment involves topical chemotherapy agents like imiquimod and 5-fluorouracil, photodynamic therapy, surgical excision of the tumours, cryotherapy, electrodessication and curettage etc. Patients suffer from many tumours at different areas. Most of the large tumours need surgical excision leaving behind scars which may even need skin grafting. Hence, non-surgical treatments are chosen for smaller tumours.
It is essential for patients with Gorlin syndrome to continue regular follow ups with specific consultants for long term monitoring of the signs and symptoms.