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9 - Nevoid basal cell carcinoma (Gorlin) syndrome

Published online by Cambridge University Press:  31 July 2009

By
Robert J. Gorlin
Edited by
E. Steve Roach  and
Van S. Miller
Robert J. Gorlin
Affiliation:
Department of Oral Pathology, School of Dentistry, University of Minnesota, MN, USA
E. Steve Roach
Affiliation:
Wake Forest University, North Carolina
Van S. Miller
Affiliation:
University of Texas Southwestern Medical Center, Dallas
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Summary

Introduction

The nevoid basal cell carcinoma syndrome (NBCCS) is characterized by numerous basal cell cancers and epidermal cysts of the skin, odontogenic keratocysts of the jaws, palmar and plantar pits, calcified dural folds, various neoplasms or hamartomas (ovarian fibromas, medulloblastoma, lymphomesenteric cysts, fetal rhabdomyomas, etc.) and various stigmata of maldevelopment (rib and vertebral abnormalities, cleft lip and/or palate, cortical defects of bones, etc.).

The condition, first described independently over 100 years ago by Jarisch (1894) and White (1894), probably existed during dynastic Egyptian times (Satinoff & Wells, 1969). It has been variously known as basal cell nevus syndrome, Gorlin–Goltz syndrome, Gorlin syndrome and nevoid basal cell carcinoma syndrome. Admittedly, none is satisfactory as selection of only one facet (and in blacks a relatively uncommon one) is highly biasing. The term nevus does not project the truly cancerous nature of the skin lesions, although only a small number of basal cell carcinomas become aggressive. Eponyms imply priority of description (and are often wrong, frequently chauvinistic, and say nothing about the disorder). They serve to plague residents who are required to memorize them.

Early American reports are those of Binkley and Johnson (1951), Howell and Caro (1959), and Gorlin and Goltz (1960). Comprehensive systematic surveys (Gorlin, 1987, 1995; Evans et al., 1993; Shanley et al., 1994; Kimonis et al., 1997; LoMuzio et al., 1999) and historic reviews (Howell, 1980; Gorlin, 1987) of the syndrome are available.

Type
Chapter
Information
Neurocutaneous Disorders , pp. 77 - 87
Publisher: Cambridge University Press
Print publication year: 2004

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References

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