Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

Abstract

The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic criteria for nevoid basal cell carcinoma syndrome include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, skeletal anomalies, positive family history, ectopic calcification and neurological anomalies. We report a brother and sister who were both diagnosed with nevoid basal cell carcinoma syndrome. (Ann Dermatol (Seoul) 20(4) 221∼225, 2008)

Basal Cell Nevus Syndrome Showing Several Histologic Types of Basal Cell Carcinoma

“…The PTCH gene acts as a tumor suppressor gene, and has been mapped to the long arm of chromosome 9 q22.3-q31. Loss of function of the gene induces abnormal growth and development of normal tissues, which leads to the syndrome 4 , 5 .…”

“…BCCs in this syndrome have been found in 50 to 75% of patients and they most often appear between puberty and 35 years of age. The number of lesions varies from a few to several thousand and ranges in size from 1 to 30 mm in diameter 3 , 5 , 16 . Pits of palms and soles are distinct features of this syndrome and these lesions are 2~3 mm in diameter and 1~3 mm in depth 9 .…”

“…In addition, approximately 30% of patients have two or more histologic sub-types of BCCs with patterns of superficial, solid or nodular, cystic, adenoid, morpheaform or sclerosing, and fibroepithelioma of Pinkus 6 - 8 . Several cases of BCNS have been reported in Korea 5 , 9 , 16 - 18 ; however, only one reported case has shown various histopathologic types of BCCs in the syndrome 9 . According to this report, two cases of BCNS presented with superficial, nodular, and follicular or infundibulocystic patterns in histologic types of BCCs.…”

“…The PTCH gene is known to be important in developmental abnormalities, segmentation, and growth regulation. A deletion or inactivation of this gene is believed to cause the disorder because the PTCH gene plays a role as a tumor suppressor gene 4 , 5 . BCCs have various clinical and histologic subtypes, which include nodular or solid, cystic, micronodular, pigmented, adenoid, superficial, morpheaform or sclerosing, fibroepithelioma of Pinkus, and mixed type.…”