Gorlin-Goltz syndrome, report of two cases
Keywords:
Gorlin-Goltz, Gorlin Goltz syndrome, basal cell carcinoma, odontogenic keratocysts.Abstract
The Gorlin-Goltz syndrome is an autosomal dominant entity, with large penetrance and variable expressivity characterized by the presence of multiple basal cell carcinomas, palmar and/or plantar pits and keratocysts odontogenic tumours. Its low prevalence is due in part to late diagnosis because of its variable clinical presentation, which is why a detailed physical examination should be performed to correlate the findings with the diagnostic criteria. Below there are two cases, the first of a female patient of 51 age years that in her physical examination had one major and three minor criteria, enough to make the diagnosis. The second case was a male patient, the oldest son of the first patient, who had three major criteria and one minor. The aim of this paper is to highlight the most important aspects of this syndrome and the importance of physical examination for the diagnosis of the entity.
Author Biographies
Julie Yamile Fonseca
Médica dermatóloga, Universidad Francisco Marroquín de Guatemala; docente, cátedra de Dermatología, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
Fredy Hernández
Estudiantes de Medicina Interna, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
Santiago Guío
Estudiantes de Medicina Interna, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
Andrés Linares
Estudiantes de Medicina Interna, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
References
2. Mufaddel A, Al-Sabousi M, Salih B, AlHassani G, Osman O. A case of Gorlin-Goltz syndrome presented with psychiatric features. Behav Neurol. 2014;830874. doi: 10.1155/2014/830874.
3. Escamilla C, Sánchez L, Treviño M, Martínez H, Rivera G. Síndrome de Gorlin-Goltz: reporte de un caso clínico. Revista ADM. 2013;70:43-5.
4. Safronova M, Arantes M, Lima I, Domingues S, Almeida M, Moniz P. Síndrome de Gorlin-Goltz: revisão das características neurorradiológicas e maxilofaciais ilustradas com dois casos. Acta Med Port. 2010;23:1119-26.
5. Jia Y, Wang Y, Xie J. The Hedgehog pathway: Role in cell differentiation, polarity and proliferation. Arch Toxicol. 2015;89:179-91.
6. Kiwilsza M, Sporniak-Tutak K. Gorlin-Goltz syndrome –a medical condition requiring a multidisciplinary approach. Med Sci Monit. 2012;18:145-53.
7. Bree AF, Shah MR. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet. 2011;155:2091-7.
8. Antonoglou GN, Sándor GK, Koidou VP, Papageorgiou SN. Non-syndromic and syndromic keratocystic odontogenic tumors: Systematic review and meta-analysis of recurrences. J Craniomaxillofac Surg. 2014;42:364-71.
9. Arango A, Arroyave JE, Ruiz AC. Gorlin syndrome. About a case. CES Med. 2013;27:77-82.
10. Pierro VS da S, Marins MR, Borges de Oliveira RC, Cortezzi W, Janini ME, Maia LC, et al. Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: Case series and literature review: Afro-Brazilian family with Gorlin-Goltz syndrome. Spec Care Dentist. 2015;35:43-50..
How to Cite
Downloads
Downloads
Published
How to Cite
Issue
Section
Article metrics | |
---|---|
Abstract views | |
Galley vies | |
PDF Views | |
HTML views | |
Other views |