Clinical and oral findings in an Afro‐Brazilian family with Gorlin‐Goltz syndrome: case series and literature review

Abstract

Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual.

Skin Cancer

“…Patients with a lighter skin pigment tend to experience higher rates of and earlier onset development of BCCs compared with their darker skinned counterparts; however, skin pigmentation is not advantageous at preventing disease inheritance or from developing other anomalies (da Silva Pierro et al, 2015; John & Schwartz, 2016). It has been cited that only approximately 40% of Black patients with BCNS develop BCCs and tend to have a much lower total number compared with white individuals (Jones et al, 2011).…”

“…Thus, in genetically predisposed individuals, darker skin pigmentation may offer a protective factor against BCC. However, lack of BCC development may, in turn, delay proper diagnosis of BCNS, resulting in delayed treatment and genetic counseling (da Silva Pierro et al, 2015). This highlights the importance of understanding the various components of BCNS to aid in diagnosis despite the presence or absence of BCCs.…”

Síndrome de Gorlin Goltz e suas implicações odontológicas

“…Jeyaraj et al 9 descrevem um percentual elevado de reincidência para essas lesões (sindrômicas -82%), quando comparado a episódios de ceratocistos solitários (não sindrômicos -61%). Além disso, comparações entre ceratocistos sindrômicos e não sindrômicos revelam que, na SGG, estes tumores são múltiplos, exibem maior incidência de paraqueratinização do epitélio e apresentam número aumentado de células satélites e ilhas sólidas de proliferação epitelial 7,[11][12][13][14][15][16][17][18][19] .…”

“…Ao analisar os exames radiográficos, é possível observar lesões radiolúcidas uni ou multiloculares, circunscritas, que podem ou não envolver elementos dentais [14][15][16][17][18][19][20] e altamente capazes de promover o deslocamento de dentes erupcionados ou impactados, reabsorção radicular e extrusão dentária 14 . Em um estudo realizado por Kadlub et al 18 , entre 2005 e 2010, foi demonstrado que 57% dos TOC se desenvolveram ao redor de molares permanentes inclusos, ainda não irrompidos, justificando a teoria de desenvolvimento a partir de restos da lâmina dentária.…”

Absence of Basal Cell Carcinoma in Irradiated Childhood Cancer Survivors of Black Race: A Report from the St. Jude Lifetime Cohort Study

“…Most studies of populations other than cancer survivors either did not report outcomes by race or were limited by the non-black racial homogeneity of their cohorts (4–8, 10–12). Apart from those occurring in individuals with nevoid basal cell carcinoma syndrome (NBCCS) (18–20), the few reports of BCC in previously irradiated blacks are limited to individuals treated with scalp radiation for tinea capitis (21, 22). These observations led us to investigate the influence of race on the occurrence of BCC in previously irradiated adult survivors of childhood cancer.…”