scholarly journals Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment

2017 ◽  
Vol 4 ◽  
pp. 381-387 ◽  
Author(s):  
Henryk Witmanowski ◽  
Paweł Szychta ◽  
Katarzyna Błochowiak ◽  
Arkadiusz Jundziłł ◽  
Rafał Czajkowski
Keyword(s):  
Basal Cell ◽  
Genetic Predisposition ◽  
Clinical Picture ◽  
Basal Cell Nevus Syndrome ◽  
Goltz Syndrome

scholarly journals A Rare Case of Gorlin-Goltz Syndrome in Children

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Fernanda Brasil Daura Jorge Boos Lima ◽  
Ana Paula Cota Viana ◽  
Luciano Henrique Ferreira Lima ◽  
Bruna Campos Ribeiro ◽  
Carlos Eduardo Assis Dutra ◽  
...  
Keyword(s):  
Basal Cell ◽  
Maxillofacial Surgery ◽  
Clinical Manifestations ◽  
Oral And Maxillofacial Surgery ◽  
Basal Cell Nevus Syndrome ◽  
Dental Eruption ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas ◽  
Ocular System ◽  
Dominant Condition

The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression. It presents a series of relevant clinical manifestations that suggest its diagnosis in cutaneous, bone, dental, soft tissue, nervous, and ocular system disorders. This condition requires a great interaction of several specialists to improve the patient’s life. In this case, we presented a 9-year-old male patient referred to the Department of Oral and Maxillofacial Surgery reporting failure in the normal chronology of dental eruption. After evaluation, it was observed that the patient had 13 typical characteristics of the syndrome, including keratocysts, bifid ribs, palmoplantar pits, and 10 other minor characteristics. In conclusion, the expression of so many features of Gorlin-Goltz syndrome is rare in infants, and early diagnosis is important to decrease morbidity and mortality associated with basal cell carcinomas.

scholarly journals Carcinoma escamocelular de labio superior en paciente con síndrome nevoide basocelular. Reporte de caso clínico / Upper Lip Squamous Cell Carcinoma in Patient with Basal Cell Nevus Syndrome. Case Report

2018 ◽  
Vol 36 (77) ◽  
Author(s):  
Nathalia López Muñoz ◽  
Paula Andrea Ordóñez Ropero ◽  
Leonardo Vargas Rico
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Basal Cell ◽  
De Novo ◽  
Diagnostic Process ◽  
X Rays ◽  
Upper Lip ◽  
Basal Cell Nevus Syndrome ◽  
Goltz Syndrome

RESUMEN. Antecedentes: El síndrome de Gorlin-Goltz, o síndrome nevoide de células basales (SNCB), es un trastorno autosómico dominante de baja incidencia. Su etiología está relacionada con una mutación en el gen PTCH y afecta los sistemas esquelético, oftalmológico y neurológico. Su prevalencia es de 1:60.000 y las mutaciones de novo se presentan aproximadamente en un 20 % a 30 % de los casos. Objetivo: Describir el proceso diagnóstico y manejo de un caso de esporádica presentación de una paciente con SNCB con carcinoma escamocelular (CEC) en labio superior. Descripción del caso: Se trató de una paciente de 58 años, quien asistió a consulta odontológica por motivos estéticos y funcionales. Se encontró un CEC (confirmado por inmunohistoquímica) asintomático delimitado en el lado izquierdo del labio superior, con erosiones de color rojizo y costra. No se encontraron linfoadenopatías asociadas. También presentó fisuras palmoplantares y múltiples carcinomas basocelulares en la espalda y el dorso de la mano izquierda (con antecedentes familiares similares). Radiográficamente, no se observaron queratoquistes mandibulares que usualmente se asocian con el síndrome de Gorlin-Goltz. Conclusiones: La paciente fue diagnosticada con SNCB, pues presentaba dos criterios mayores (dos o más CBC y piqueteado palmoplantar) y dos menores (calcificación laminar de la hoz del cerebro y antecedente de fibromas ováricos). El tratamiento odontológico se planeó y se remitió a la paciente a la institución pertinente para manejar su condición sistémica.ABSTRACT. Background: Gorlin-Goltz syndrome, or basal cell nevus syndrome (BCNS), is a rare autosomal dominant disorder caused by mutations in the Patched (PTCH) gene. BCNS affects about 1:60,000 people and de novo mutations represent approximately 20 % to 30 % of all cases. Purpose: To describe the diagnostic process and management of a rare case of a female patient with BCNS and squamous cell carcinoma (SCC) in upper lip. Case description: The patient was a 58-year-old woman who attended the dental office seeking aesthetic and functional treatment. An asymptomatic, delimited SCC with red erosions and scab in left upper lip was diagnosed (confirmed through immunohistochemistry). Associated lymph adenopathy was not observed. The patient also presented palmoplantar pits and multiple basal cell carcinomas (BCC) in back and left-hand back (and similar family history). X-rays did not show mandible keratocysts often associated to the Gorlin-Goltz syndrome. Conclusions: The patient was diagnosed with BCNS because she met two major (two or more BCCs and palmoplantar pits) and two minor criteria (lamellar calcification of brain sickle and history of ovary fibromas). Dental treatment was planned and the patient was referred to another institution to address her systemic condition.

scholarly journals Nevoid Basal-Cell Syndrome: literature review and case report in a family

1995 ◽  
Vol 113 (3) ◽  
pp. 917-921 ◽  
Author(s):  
Alfio José Tincani ◽  
Antônio Santos Martins ◽  
Ricardo Gomes Andrade ◽  
Edgar José Franco Mello Jr. ◽  
Marco Antônio Camargo Bueno
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Basal Cell ◽  
Skin Lesions ◽  
Definitive Treatment ◽  
Basal Cell Nevus Syndrome ◽  
X Ray ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

scholarly journals A guideline for the clinical management of basal cell nevus syndrome (Gorlin‐Goltz syndrome)

2021 ◽  
Author(s):  
B.J.A. Verkouteren ◽  
B. Cosgun ◽  
M.G.H.C. Reinders ◽  
P.A.W.K. Kessler ◽  
R.J. Vermeulen ◽  
...  
Keyword(s):  
Basal Cell ◽  
Clinical Management ◽  
Basal Cell Nevus Syndrome ◽  
Goltz Syndrome

A novel phenotype with features of basal cell nevus syndrome and basaloid follicular hamartoma syndrome

2011 ◽  
Vol 65 (1) ◽  
pp. e17-e19 ◽  
Author(s):  
Weston T. Waxweiler ◽  
Chris G. Adigun ◽  
Pam Groben ◽  
David S. Rubenstein
Keyword(s):  
Basal Cell ◽  
Basal Cell Nevus Syndrome

Basal cell nevus syndrome: an update on clinical findings

2021 ◽  
Author(s):  
Lucía T. Fernández ◽  
Sonia S. Ocampo‐Garza ◽  
Guillermo Elizondo‐Riojas ◽  
Jorge Ocampo‐Candiani
Keyword(s):  
Basal Cell ◽  
Clinical Findings ◽  
Basal Cell Nevus Syndrome

Exceptional Bone Metastasis of Basal Cell Carcinoma in Gorlin-Goltz Syndrome

Dermatology ◽  
2010 ◽  
Vol 220 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Tatiana Lamon ◽  
Stephane Gerard ◽  
Nicolas Meyer ◽  
Benjamin Losfeld ◽  
Gabor Abellan van Kan ◽  
...  
Keyword(s):  
Bone Metastasis ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Goltz Syndrome

Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22

2009 ◽  
Vol 35 (12) ◽  
pp. 2051-2053 ◽  
Author(s):  
Klara Mosterd ◽  
Anja Sommer ◽  
Arienne van Marion ◽  
Martin Lacko ◽  
Jos Herbergs ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Interstitial Deletion ◽  
Basal Cell Nevus Syndrome ◽  
Chromosome 9Q22
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