CORRECT DIAGNOSIS:

Nevoid Basal Cell Carcinoma Syndrome

DISCUSSION:

Nevoid Basal Cell Syndrome is a rare, autosomal dominant disorder due to a mutation in the human PTCH gene. The clinical features include early development of multiple basal cell carcinomas, odontogenic keratocysts of the jaw, palmoplantar pits, calcification of the falx cerebri, family history of nevoid basal cell carcinoma syndrome, and increased risk for medulloblastoma, meningioma, ovarian fibromas, and cardiac fibromas.

TREATMENT:

Our patient has undergone multiple excisions under general anesthesia with plastic surgery as well as electrodessication and curettage of multiple truncal BCCs with subsequent keloid formation. He is currently using 5 times weekly topical imiquimod 5% cream and daily tretinoin 0.1% cream. Other options for treatment include MOHs micrographic surgery, topical 5-flourouracil, topical tretinoin, photodynamic therapy, CO2 laser resurfacing, and chemoprevention with oral retinoids. In adults there is future consideration for the use of Vismodegib.

REFERENCES:

Gorlin, R. J., & Goltz, R. (1960). Multiple nevoid basal cell epitheliomata, jaw cysts, bifid rib—a syndrome. New England Journal of Medicine, 262, 908-911. https://doi.org/10.1056/NEJM196004212621804

Evans, D. G. R., Farndon, P. A., Burnell, L. D., Rao Gattamaneni, H., & Birch, J. M. (1991). The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. British Journal of Cancer, 64, 959-961. https://doi.org/10.1038/bjc.1991.402

Gorlin, R. J. (2004). Nevoid basal cell carcinoma (Gorlin) syndrome. Genetics in Medicine, 6, 530-539. https://doi.org/10.1097/01.gim.0000132530.45317.69

Farndon, P. A., Del Mastro, R. G., Evans, D. G. R., & Kilpatrick, M. W. (1992). Location of gene for Gorlin Syndrome. Lancet, 339, 581-582. https://doi.org/10.1016/0140-6736(92)90231-P

Bale, A. E., & Yu, K. P. (2001). The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics, 10, 757-761. https://doi.org/10.1093/hmg/10.7.757

Evans, D. G. R., Ladusans, E. J., Rimmer, S., Burnell, L. D., Thakker, N., & Farndon, P. A. (1993). Complications of the naevoid basal cell carcinoma syndrome: results of a population-based study. Journal of Medical Genetics, 30, 460-464. https://doi.org/10.1136/jmg.30.6.460

Kimonis, V. E., Goldstein, A. M., Pastakia, B., Yang, M. L., Kase, R., DiGiovanna, J. J., & Bale, A. E. (1997). Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics, 69, 299-308. https://doi.org/10.1002/(SICI)1096-8628(19970314)69:4<299::AID-AJMG7>3.0.CO;2-E

Goldstein, A. M., Pastakia, B., DiGiovanna, J. J., Poliak, S., Santucci, S., Kase, R., Bale, A. E., & Bale, S. J. (1994). Clinical findings in two African-American families with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics, 50, 272-281. https://doi.org/10.1002/ajmg.1320500304

Shanley, S., Ratcliffe, J., Hockey, A., Haan, E., Oley, C., Ravine, D., Martin, N., Wicking, C., & Chenevix-Trench, G. (1994). Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals. American Journal of Medical Genetics, 50, 282-290. https://doi.org/10.1002/ajmg.1320500305

Bree, A. F., & Shah, M. R. (2011). Consensus statement from the first international colloquium on basal cell nevus syndrome. American Journal of Medical Genetics Part A, 155, 2091-2097. https://doi.org/10.1002/ajmg.a.34263

Doctoroff, A., Oberlender, S. A., & Purcell, S. M. (2003). Full-face carbon dioxide laser resurfacing in the management of a patient with the nevoid basal cell carcinoma syndrome. Dermatologic Surgery, 29, 1236-1240. https://doi.org/10.1046/j.1524-4725.2003.29252.x

Nouri, K., Chang, A., Trent, J. T., & Jimenez, G. P. (2002). Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. Dermatologic Surgery, 28, 287-290. https://doi.org/10.1046/j.1524-4725.2002.02021.x

Itkin, A., & Gilchrest, B. A. (2004). 5-Aminolevulinic acid and blue light photodynamic therapy for treatment of multiple basal cell carcinomas in two patients with nevoid basal cell carcinoma syndrome. Dermatologic Surgery, 30, 1054-1061. https://doi.org/10.1111/j.1524-4725.2004.30232.x

Oseroff, A. R., Shieh, S., Frawley, N. P., Cheney, R., Blumenson, L. E., Pivnick, E. K., & Bellnier, D. A. (2005). Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Archives of Dermatology, 141, 60-67. https://doi.org/10.1001/archderm.141.1.60

Morton, C. A., Brown, S. B., Collins, S., Ibbotson, S., Jenkinson, H., Kurwa, H., Langmack, K., McKenna, K., Mosely, H., Pearse, A. D., Stringer, M., Taylor, D. K., Wong, G., & Rhodes, L. E. (2002). Guidelines for topical photodynamic therapy: report of a workshop of the British Photodermatology Group. British Journal of Dermatology, 146, 552-567. https://doi.org/10.1046/j.1365-2133.2002.04667.x

Wolf, P., Fink-Puches, R., Reimann-Weber, A., & Kerl, H. (1997). Development of malignant melanoma after repeated topical photodynamic therapy with 5-aminolevulinic acid at the exposed site. Dermatology, 194, 53-54. https://doi.org/10.1159/000246392

Geisse, J., Caro, I., Lindholm, J., Golitz, L., Stampone, P., & Owens, M. (2004). Imiquimod 5% cream for the treatment of superficial basal cell carcinoma: results from two phase III, randomized, vehicle-controlled studies. Journal of the American Academy of Dermatology, 50, 722-733. https://doi.org/10.1016/j.jaad.2003.07.005

Kagy, M. K., & Amonette, R. (2000). The use of imiquimod 5% cream for the treatment of superficial basal cell carcinomas in a basal cell nevus syndrome patient. Dermatologic Surgery, 26, 577-579. https://doi.org/10.1046/j.1524-4725.2000.00210.x

Micali, G., Lacarrubba, F., Nasca, M. R., & DePasquale, R. (2003). The use of imiquimod 5% cream for the treatment of basal cell carcinoma as observed in Gorlin’s syndrome. Clinical and Experimental Dermatology, 28, 19-23. https://doi.org/10.1046/j.1365-2230.2003.01308.x

Strange, P. R., & Lang, P. G. (1992). Long-term management of basal cell nevus syndrome with topical tretinoin and 5-fluorouracil. Journal of the American Academy of Dermatology, 27, 842-845. https://doi.org/10.1016/0190-9622(92)70029-A

Sánchez-Conejo-Mir, J., & Camacho, F. (1989). Nevoid basal cell carcinoma syndrome: combined etretinate and surgical treatment. Journal of Dermatologic Surgery and Oncology, 15, 868-871. https://doi.org/10.1111/j.1524-4725.1989.tb03663.x

Tangrea, J. A., Edwards, B. K., Taylor, P. R., Hartman, A. M., Peck, G. L., Salasche, S. J., Menon, P. A., Benson, P. M., Mellette, J. R., Guill, M. A. (1992). Long-term therapy with low-dose isotretinoin for prevention of basal cell carcinoma: a multicenter clinical trial. Journal of the National Cancer Institute, 84, 328-332. https://doi.org/10.1093/jnci/84.5.328

DermNet NZ. (n.d.). Basal cell naevus syndrome. Retrieved from https://dermnetnz.org/topics/basal-cell-naevus-syndrome