January 2, 2011

| perri dermatology
Medically reviewed by Anthony J. Perri, M.D.

Basal Cell Nevoid Syndrome (BCNS), also called Gorlin Syndrome, is a rare genetic disease in which patients are at a very high risk for developing multiple Basal Cell Cancers at a very young age and I occasionally encounter this syndrome in my The Woodlands dermatology and Conroe dermatology offices.  BCNS is an autosomal dominant genetic disease meaning that if one parent has the disease, the children have a 50% chance of inheriting the genetic defect.  The PTCH1 gene is defective and it normally encodes a tumor suppressor gene called sonic hedgehog transmembrane receptor protein.  In addition to multiple Basal Cell Cancers developing in childhood patients can develop multiple other findings.  Palmoplantar pits are very small (2-3mm) indentations in the skin of the palms of the hands and soles of the feet.  Odontogenic keratocysts are jaw cysts that develop in the maxillary bone and can become malignant.  Bone abnormalities are common as the spine can develop scoliosis, the ribs can become bifid, and frontal bossing can be found on the skull.  The central nervous system is also affected with calcification of the falx cerebri, agenesis of the corpus callosum, and development of tumors called medulloblastomas.  The eyes may be affected with cataracts, colobomas, blindness, hypertelorism, and strabismus.  Women are prone to developing ovarian fibromas and fibrosarcoma.  In addition to dermatologists caring for patients with BCNS, mulitple specialists must be involved in the care of these patients soon after the diagnosis is made.