Greatest Prevalence

Greatest Prevalence – Manifestations of BCCNS

Diagnostic Findings in Adults – 50% or greater frequency

Source: Robert J Gorlin, M. Michael Cohen, Jr., Raoul C. M. Hennekam. Gorlin’s Syndrome of The Head and Neck, 4th Edition. Pages 444-453. New York, New York: Oxford University Press, 2001.

Basal Cell Carcinoma

Associated Terms: BCC, basal cells, basal cell skin cancers

What is Basal Cell Carcinoma?
This is the most common manifestation of BCCNS. Ninety percent of these individuals will have BCC’s by the age of 35, 15 % before entering their teen years. Basal cell carcinomas are the most common form of skin cancer. One in five individuals in the United States, who do not have BCCNS, will develop this type of skin cancer during their lifetime. These are called spradic basal cell carcinomas.

The top layer of the skin is called the epidermis. The bottom layer of the epidermis is the basal cell layer. With basal carcinoma, cells in this base layer become cancerous. Most basal cell cancers occur on skin that is regularly exposed to sunlight or other ultraviolet radiation. In people with BCCNS, these skin cancers can develop in non-sun exposed areas as well.

Basal cell carcinomas classically have raised, pearly / glossy borders and can appear to be translucent. They are pink to skin colored, and may have flecks of darker color within them. These skin lesions may be dome shaped, flat, bumpy, or scaly, and could develop a small crater in the center. Sometimes they can look like small patches of eczema. Basal cell carcinomas may bleed easily / ooze, and crust over. In rare instances, basal cell carcinomas may be painful and/or itchy.

What You Should Know
All patients with BCCNS should see a dermatologist regularly for thorough full body skin checks. These visits should occur every 3-6 months or as determined by the dermatologist/individual/caregiver. It is essential to feel comfortable with your dermatologist as this is a life-long relationship. When surgical excision is recommended, there are options which include MOHS surgery. It is suggested that one choose a member of the American College of MOHS Surgeons to perform this procedure.

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Keratocystic Odontogenic Tumors 

Associated Terms: KCOT’s, jaw cysts, previously known as the odontogenic keratocyst (OKC).

What are Keratocystic Odontogenic Tumors?
Keratocystic odontogenic tumors are considered locally aggressive tumors of the lower and upper jaw bones (mandible and maxilla). If these are left untreated, they can result in destruction of the jaw bones and loss of permanent teeth. These tumors have a high recurrence rate and should be treated aggressively.

KCOT’s may be diagnosed on routine dental x-rays or when pain, swelling, and or drainage develop in the area. They may be associated with impacted or baby teeth, and can cause displacement of erupting teeth. These tumors can grow into the sinuses causing discomfort in the cheek(s).

What You Should Know
Keratocystic odontogenic tumors are treated by oral and maxilla-facial surgeons. Less frequently, otolaryngologists (ear, nose & throat, ENT physicians) treat these patients. It is important to be followed throughout one’s life to monitor for new and / or recurrent KCOT’s.

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Pits on the palms and soles of feet

Associated Terms: Palmoplantar pits, pitting

What are Pits?
Pits are small depressions or dots on the hands and/or feet. The majority of individuals with BCCNS have pits – some may have a few of them, some may have hundreds, and some patients have none. If you have them, it is generally a definitive sign you have BCCNS.

What You Should Know
Generally, these are painless, and cause no problems. After a long time in the water (tub, pool, ocean), the pits have raised edges. Rarely, they may become infected, and if this occurs, the patient should be seen by a medical professional.

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Enlarged Occipitofrontal Circumference

Associated Terms: Enlarged skull/head, macrocephaly, frontoparietal bossing

What is Enlarged Occipitofrontal Circumference?
Many individuals with BCCNS have enlarged skulls (macrocephaly). Frontoparietal bossing means that the forehead is prominent to the eyebrow ridge, and the top to back of the head is enlarged as well. For some, all this means is difficulty finding hats that fit. Others may require surgical intervention to correct the development, formation, and fusion of the bones of the skull.

What You Should Know
Infants, toddlers, and young children should have their head size monitored by their pediatrician or other recommended medical professional(s). It is important that the “sutures” (spaces between the skull bones) be observed for proper growth and development. Referral to other medical specialists (cranio-facial surgeon) may be advised.

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Epidermal Cysts of the Skin 

Associated Terms: skin cysts, fatty cysts/tumors

What are Epidermal Cysts?
These are benign (non-cancerous) cysts that may occur anywhere on the body. Some grow, others remain the same size. Epidermal cysts can drain, and/or become infected. In this case, it is necessary to be seen by a medical professional.

What You Should Know
Some epidermal cysts of the skin require no treatment. Others may need to be excised. Plastic surgeons, dermatologists, and general surgeons do this type of procedure. If they become infected, medical treatment will be necessary.

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High Arched Palate

Associated Terms: High-vaulted palate

What is a High Arched Palate?
A high arched palate is where the palate (roof of the mouth) is unusually high and may be narrowed. This can be seen in patients with BCCNS. It may cause some narrowing of the airway, and/or disorders of breathing while sleeping. It also may result in no symptoms or problems.

What You Should Know
If an individual has a high arched palate, they should be evaluated by a maxilla-facial surgeon or an otolaryngologist (ear, nose, and throat physician).

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Rib Anomalies 

Associated Terms: Splayed, fused, partially missing, bifid ribs

What are Rib Anomalies?
Individuals with BCCNS may have a variety of minor changes in their ribs. These include splaying, fusion, partially missing, and bifid ribs. Generally, these changes do not cause any symptoms.

What You Should Know
Generally, these rib abnormalities do not cause any symptoms, and therefore do not require any care.

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Spina Bifida Occulta of Cervical or Thoracic Vertebrae

Associated Terms: Closed spina bifida

What is spina bifida occulta of cervical or thoracic vertebrae?
Spina bifida occulta is a malformation of one or more of the bones of the spine. Patients with BCCNS may have this abnormality in the cervical (neck) or thoracic (chest/upper back) vertebrae. Spina bifida occulta is a “closed” abnormality in that the spinal cord is not displaced significantly, as it is in spina bifida. For this reason, spina bifida occulta does not usually cause any symptoms. In the rare instance where the spinal cord is tethered (compressed) by the boney abnormalities, patients may have deformities in their feet, numbness / weakness / clumsiness of the legs, dysfunction of the bladder or bowels, or numbness / weakness of the hand(s).

What You Should Know
Individuals with spina bifida occulta of the cervical or thoracic vertebrae should be evaluated by a neurologist and or neurosurgeon who has experience with these abnormalities.

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Calcified Falx Cerebri 

Associated Terms: Calcified falx

What is Calcified Falx Cerebri?
This is a calcification of the midline of the brain. It is often seen in patients of all ages with BCCNS. This change, which is noted on x-rays and / or brain scans, has no associated symptoms.

What You Should Know
In general, this manifestation of BCCNS causes no problems. If desired, one may see the appropriate physician for information as desired.

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Calcified Diaphragma Sellae

Associated Terms: Bridged sella, fused clinoids

What is calcified diaphragma sellae?
The diapragma sellae is a small fold in the dura mater which is the outermost, tough membrane that surrounds the brain and spinal cord. On x-rays, this finding appears as if another structure which supports the pituitary gland in the brain (sella turcica) is bridged, and or the small clinoid bones are fused together.

Generally, there are no symptoms associated with this radiographic change.

What You Should Know
No treatment is needed in the majority of individuals with BCCNS. If desired, one may see the appropriate physician for information as desired.

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Hyperpneumatization of the Paranasal Sinuses

Associated Terms: none

What is hyperpneumatization of the paranasal sinuses?
This is a radiologic finding where there is extra air-space in the sinuses around the nose. Generally, there are no symptoms or problems that arise from this incidental change on x-rays.

What You Should Know
No treatment is needed in the vast majority of individuals with BCCNS. If desired, one may see the appropriate physician for information as desired.

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