Clinical characteristics and genetic identity of the basal cell nevus syndrome (Gorlin-Goltz syndrome)
Breytenbach, H.S.; Gericke, G.S.; Muller, C.J.; Nortjé, C.J.; Shanley, B.C.; Swart, E.; Van Wyk, C.W.
South African Medical Journal 49(14): 544-550
1975
ISSN/ISBN: 0256-9574 PMID: 167461 Document Number: 91126
The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. We were able to support a previous report that patients with the basal cell naevus syndrome have a normal end-organ response to parathormone stimulation, and that it is most probably not related to pseudohypoparathyroidism, as earlier reports suggested.