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Basal cell nevus syndrome Causes and Risks:
Basal cell nevus syndrome is inherited as an autosomal dominant trait. Children with this disease have wide set eyes, a broad nasal saddle, and a heavy protruding brow. They may also have a protruding jaw (prognathism). The hallmark of this disorder is the appearance of skin cancer ( basal cell carcinoma ) that occurs in groups of tumors over the cheekbones, upper lip, and around the eyes. The cancers may appear on other areas of the body also.
Nervous system involvement may include hydrocephalus , seizures , mental retardation , deafness , and brain tumors ( medulloblastoma ). Defects in the iris or lens of the eye and blindness are manifestations that affect the eyes.
Defects in the bones include cysts in the upper jaw (maxilla) and lower jaw (mandible) that may cause abnormal tooth development or spontaneous jaw fractures . Other bony defects may be associated such as scoliosis , kyphosis , and rib abnormalities.
Prevention:
Genetic counseling will be of value to prospective parents. If one parent is affected, the probability is 50% that the infant will be affected also.
Symptoms:
- family history of basal cell nevus syndrome
- a past diagnosis of multiple basal cell skin cancers
+ frequently located around the eyes, cheek bones, upper lip
- characteristic facial appearance:
+ wide set eyes (hypertelorism)
+ saddle of nose is broad (broad nasal bridge)
+ heavy ridge over eyes (frontal bossing)
+ protruding jaw (prognathism) - defect in iris (coloboma)
+ slit in iris or
+ irregularity of pupil Other symptoms may include:
Signs and Tests:
There is often a family history of basal cell nevus syndrome.
Physical examination and testing may show cataracts , bone cysts in the jaw, hydrocephalus , calcification of falx (mineral deposits in the brain or other tissues), and multiple bony abnormalities.
Tests may include:
Treatment:
This condition requires evaluation and treatment by several specialists depending on the affected systems. For example, a cancer specialist (oncologist) may treat tumors, and an orthopedic surgeon may be needed to help treat bone abnormalities.
Prognosis:
Ongoing therapy will continue to be needed for new cancerous lesions. The expected outcome varies depending on secondary or associated problems (such as hydrocephalus ).
Complications:
Call Your Healthcare Provider:
Call for an appointment with your health care provider if you or any family members have basal cell nevus syndrome and you are planning to have a child.
Call your health care provider if you have a child who has symptoms suggestive of this condition.
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas, and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This picture is a close-up of the pits found in the palm of an individual with basal cell nevus syndrome.
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas (skin cancers). This picture is a close-up of the pits found on the sole of the foot of an individual with basal cell nevus syndrome.
Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas (a type of skin cancer), and skeletal abnormalities. This individual has multiple flesh-colored, dome-shaped papules on the face which are basal cell cancers, and palmar pits.
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