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Quick Review #134 - #pathology #oralpathology #doctorgallagher #oralsurgery #oralsurgeon #dentist #dentistry #dental

Gorlin-Goltz Syndrome, also known as “Nevoid Basal Cell Carcinoma Syndrome” (NBCCS), is a genetic disorder characterized by a predisposition to multiple basal cell carcinomas, jaw cysts, and other abnormalities. The syndrome is caused by mutations in the PTCH1 gene, which affects the hedgehog signaling pathway.

• Major Criteria for Gorlin-Goltz Syndrome:

1. Multiple Basal Cell Carcinomas (BCCs): These typically appear at a young age.

2. Multiple Odontogenic Keratocysts (OKCs): These jaw cysts are often detected in adolescence or early adulthood.

3. Palmar or Plantar Pits: These small depressions in the skin of the palms or soles are characteristic of the syndrome.

4. Calcification of the Falx Cerebri: This is detectable through imaging.

5. Medulloblastoma: This type of brain tumor can occur, especially in young children.

6. Bifid, fused, or markedly splayed ribs.

7. First-degree relative with NBCCS.

• Minor Criteria for Gorlin-Goltz Syndrome:

1. Macrocephaly: An unusually large head.

2. Congenital Malformations: Such as cleft lip or palate, frontal bossing, or coarse facial features.

3. Skeletal Abnormalities: Including sprengel deformity (elevated scapula), pectus deformity, or syndactyly.

4. Radiologic Abnormalities: Such as bridging of the sella turcica, vertebral anomalies, or flame-shaped lucencies of the hands and feet.

5. Ovarian Fibroma.

6. Other Cysts: Like lymphomesenteric cysts.

*To diagnose Gorlin-Goltz Syndrome, a patient should have at least two major criteria or one major and two minor criteria.*

References:

1. PACS.de. (n.d.). Gorlin-Goltz syndrome. Retrieved from https://lnkd.in/epymXFrX.

2. Farndon, P. A., Del Mastro, R. G., Evans, D. G., & Kilpatrick, M. W. (1992). Location of gene for Gorlin syndrome. Nature Genetics, 6(1), 85-90.

3. Evans, D. G., Ladusans, E. J., Rimmer, S., Burnell, L. D., Thakker, N., & Farndon, P. A. (1993). Complications of the Gorlin syndrome: results of a population-based study. Journal of Medical Genetics, 30(6), 460-464.

4. Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., Bale, A. E., & Bale, S. J. (1997). Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. The American Journal of Medical Genetics, 69(3), 299-308.

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