Basal cell nevus syndrome in a 56-year old Filipino female: A case report
- Author:
Kathleen May V. Eusebio-Alpapara
1
;
Cindy Pearl Sotalbo
2
;
Cynthia Ciriaco-Tan
1
Author Information
- Publication Type:Case Reports
- Keywords: Gorlin-Goltz syndrome; Nevoid basal cell carcinoma syndrome
- MeSH: Basal Cell Nevus Syndrome; Carcinoma, Basal Cell
- From: Journal of the Philippine Dermatological Society 2019;28(1):42-50
- CountryPhilippines
- Language:English
-
Abstract:
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, BCNS has variable 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 presented 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 cataracts. 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. - Full text:jpds 17.pdf
