Basal cell nevus syndrome

Alternative names:

nevoid basal cell carcinoma syndrome

Definition:

An inherited group of multiple defects involving the skin, nervous system, eyes, endocrine glands, and bones; the condition results in an unusual facial appearance and a predisposition for skin cancer.

Causes, incidence, and risk factors:

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.