Authors: Kathleen May V. Eusebio-Alpapara MD, Cindy Pearl Sotalbo MD , Cynthia Ciriaco-Tan MD
Introduction:Basal cell nevus syndrome (BCNS) (Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome) is a rare inherited multisystem and tumor-predisposing disorder caused by the patched tumor suppressor gene mutations and suppressor of fused gene. Its diagnosis follows a set of criteria based on specific cutaneous features and radiologic findings. Although an autosomal dominant disorder with a high degree of penetrance is the usual mode of transmission, BCNS has variable phenotypic expression making its diagnosis difficult. The limited epidemiologic data among Asians especially in the Philippines hamper early detection or cause frequent misdiagnosis of the condition.
Case report: A 56-year-old Filipino female with Fitzpatrick skin type V presents with early onset multiple basal cell carcinomas and bilateral palmoplantar pits. Radiologic investigation reveals odontogenic keratocyst, calcification of the falx cerebri, bridging of the sella turcica, bifid/splayed ribs and vertebral anomalies. The patient exhibits coarse facial features and bilateral cataract. Cranial computed tomography scan shows cerebrocerebellar atrophy with ventricular dilatation. Management included wide excision of the nodular basal cell carcinomas (BCC), application of 5-flourouracil cream on the superficial BCC and electrodessication and curettage of the smaller lesions. Oral acitretin was also prescribed.
Conclusion:This is a case that highlights the approach to diagnosis, clinical features and management of BCNS in a Filipino patient. Since various phenotypic presentations may exist among dark-skinned individuals, early diagnosis poses a challenge among physicians. Epidemiologic and prevalence studies among Filipinos may be done to aid in the diagnosis and early management of this rare genodermatosis.
Eusebio-Alpapara KMV, Sotalbo CP, Ciriaco-Tan C. Basal cell nevus syndrome in a 56-year -old Filipino female: a case report. J Phil Dermatol Soc 2019, 28(1), 42-50
Basal cell nevus syndrome, Gorlin-Goltz syndrome, Nevoid basal cell carcinoma syndrome, Basal cell Carcinoma
Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT. First evidence of genotype-phenotype correlations in Gorlinsyndrome.J MedGenet. 2017;54(8):530. Epub 2017 Jun 8.
Castori, M. et.al. Genetic Diseases Predisposing to Basal cell carcinoma.Review article. European Journal of Dermatology. 2012. Vol 22(3). P299-309
Kimonis, VE. et.al. Clinical Manifestations in 105 Persons with Nevoid BasalCell Carcinoma Syndrome. . American Journal of Medical Genetics. 1997.Vol.69. P299-308
Wolff K. et.al. Basal Cell Nevus Syndrome. Fitzpatrick’s Dermatology in GeneralMedicine. 7th edition. 2008. McGraw-Hill Companies. Volume 1: p 1042-48 and 1294-1303
Bolognia, J.L., J.L Jorizzo, R.P. Rapini. Dermatology 2nd edition.2008. USA:Mosby Elsevier. pp 561-73.
Reddy, KV. et.al. Diagnosis of Jaw cyst Basal Cell Nevus Syndrome fromMultiple Odontogenic Keratocyst in a 3D CT scan. Case report. Journal ofIndian Academy of Oral Medicine and Radiology. 2011. Vol 23. S401-404
Magbuhat DC, Matsuo JM and dela Cruz, RA. Basal Cell Carcinoma,Odontogenic Cysts, Brain and Skeletal Abnormalities (Gorlin Goltz Syndrome) in a 46-Year-Old Woman. Philippine Journal Of Otolaryngology-Head And Neck Surgery Vol. 32 No. 2 July– December 2017. pp38-42
Sabido PWE, Jamora MJ, and Encarnacion LE. Multiple basal cell carcinomasin an 11-yo Filipino-American girl with basal cell nevus syndrome. J PhilDermatol Soc. November 2013. pp. 69-73
Ledesma-Pacia AG, King-Ismael D, Reyes-Cacas TM, and Tan ED. Basal cell carcinoma arising from a palmar pit in a Filipino with nevoid basal cellcarcinoma syndrome. J Phil Dermatol Soc. November 2009. Vol 18. no 2. pp 27-31
Athar M, Li C, Kim AL, Spiegelman VS, and Bickers DR. Sonic HedgehogSignaling in Basal Cell Nevus Syndrome. Cancer Res. 2014 Sep 15; 74(18): 4967–4975.
Smith MJ, Beetz C, Williams SG, et.al. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine therisk associated with PTCH1 mutations. J Clin Oncol. 2014;32(36):4155. Epub 2014 Nov 17.
Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T. Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the lowfrequency of basal cell carcinoma. Am J Med Genet A. 2012 Feb; 158A(2): 351-7. doi: 10.1002/ajmg.a.34421. Epub 2012 Jan 13.
Chen K, Craig JC and Shumack S. Oral retinoids for the prevention of skincancers in solid organ transplant recipients: a systematic review ofrandomized controlled trials. Br J Dermatol. 2005;152(3):518.
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