Orofacial findings of congenital generalized lipodystrophy: a systematic review

Authors

DOI:

https://doi.org/10.33448/rsd-v9i8.6659

Keywords:

Congenital generalized lipodystrophy; Orofacial changes; Orofacial manifestations.

Abstract

This study aims to verify the orofacial findings of congenital generalized lipodystrophy (LGC) in patients diagnosed with this condition. This is a systematic review of the literature, carried out in accordance with the PubMed, Web of Science and Scopus databases. 14 studies published in the last 15 years that addressed the orofacial clinical findings of LGC were included. LGC is a rare autosomal recessive condition, presenting a wide variety of manifestations that affect the oral and facial regions. The main orofacial findings identified were prognathism, absence of facial subcutaneous fat, prominent frontal and supraorbital protrusions, low frontal hairline, triangular face, facial hirsutism, macroglossia, labial hypertrophy, abnormal dental morphology, dental caries, tooth absences, diastemas and crowding dental. The results indicate that LGC can cause significant orofacial changes in individuals, and it is important that these patients are monitored by a multidisciplinary health team, and that these professionals have knowledge based on scientific evidence regarding these clinical findings, to offer a better prognosis for these patients.

Author Biographies

Lucas Cavalcante de Sousa, Universidade Federal do Rio Grande do Norte

Graduando em Odontologia pela Universidade Federal do Rio Grande do Norte.

Amanda de Medeiros Amancio, Universidade Federal do Rio Grande do Norte

Graduanda em Odontologia pela Universidade Federal do Rio Grande do Norte.

Érika Giovana Carvalho da Silva, Universidade Federal do Rio Grande do Norte

 Fisioterapeuta (2018). Mestranda em Ciências da Reabilitação (FACISA-UFRN).

Francisca Jennifer Duarte de Oliveira, Universidade Federal do Rio Grande do Norte

Graduanda em Odontologia pela Universidade Federal do Rio Grande do Norte.

Gabriel Coutinho Gonçalves, Universidade Estadual do Ceará

Fisioterapeuta. Especialista em Residência Multiprofissional em Saúde da Família. Especialista em Micropolítica em Gestão e Trabalho em Saúde. Mestrando em Planejamento e Políticas Públicas (UECE). Centro de Estudos Sociais Aplicados - Programa de Políticas Públicas.

Dennys Ramon de Melo Fernandes Almeida, Universidade Federal do Rio Grande do Norte

Cirurgião-Dentista, especialista em Micropolíticas de Gestão e Trabalho em Saúde pela Universidade Federal Fluminense (UFF). É mestre em Patologia pela Universidade Federal do Ceará (UFC) e doutorado em Ciências Odontológicas pela Universidade Federal do Rio Grande do Norte (UFRN). Tem experiência na área de Odontologia, atuando principalmente nos seguintes temas: atenção primária à saúde, ensino superior, lesões periapicais e neoplasias de cavidade oral. Atualmente é membro da Sociedade Brasileira de Estomatologia e Patologia Oral.

Gabriel Gomes da Silva, Universidade Federal do Rio Grande do Norte

Graduando em Odontologia pela Universidade Federal do Rio Grande do Norte.

Juliana Campos Pinheiro, Universidade Federal do Rio Grande do Norte

Cirurgiã-Dentista graduada pela Universidade Tiradentes em Sergipe (2010-2015). Mestre em Patologia Oral pela Universidade Federal do Rio Grande do Norte (UFRN) (2016-2018); Doutorado em Ciências Odontológicas (andamento) - área de concentração: Biologia Experimental - UFRN (2018-2022); Membro da Sociedade Brasileira de Estomatologia e Patologia Oral (2016-atualmente).

References

Arif, A., Afzal, M. F., & Hamid, M. H. (2019). Berardinelli-Seip Syndrome: A Rare Autosomal Disorder. Annals of King Edward Medical University, 25(3), 1-3. Retrieved from https://annalskemu.org/journal/index.php/annals/article/view/3039

Bhujel, N., & Clark, H. (2016). Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. European Archives of Paediatric Dentistry, 17(2), 137-140. doi: 10.1007 / s40368-015-0210-z

Chakraborty, P. P., Datta, S., Mukhopadhyay, S., & Chowdhury, S. (2016). Pseudoacromegaly in congenital generalised Lipodystrophy (Berardinelli-seip syndrome). BMJ Case Reports, 2016(1), 2–4. doi: 10.1136/bcr-2016-214493

Chen, X. X., & Yang T. (2015). Roles of leptin in bone metabolism and bone diseases. Journal of Bone and Mineral Metabolism, 33(1), 474-485. doi: 10.1007 / s00774-014-0569-7

Dal, A. I., & Patel, H. (2010). Berardinelli-Seip Syndrome. Online Journal of Health and Allied Sciences, 9(4), 28. Retrieved from http://cogprints.org/7275/1/2010-4-28.pdf

Durão, N., & Amarante, J. (2017). Osteossíntese no tratamento cirúrgico dos prognatismos: Estado da arte. Acta Médica Portuguesa, 30(3), 224-232. doi: 10.20344/amp.7788

Elefteriou, F., Takeda, S., Ebihara, K., Magre, J., Patano, N., Kim, C. (2004). Serum leptin level is a regulator of bone mass. Proceedings of the National Academy of Sciences of the United States of America, 101(9), 3258-3263. doi: 10.1073/pnas.0308744101

Eser, M., Ayaz, A., & Yeşil, G. (2017). A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene. The Turkish Journal of Pediatrics, 59(5), 601-603. doi: 10.24953 / turkjped.2017.05.017

Friguls, B., Coroleu, W., Del-Alcazar, R., Hilbert, P, Van-Maldergem, L., & Pintos-Morell, G. (2009). Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. European Journal of Medical Genetics, 52(1), 14-16. doi: 10.1016 / j.ejmg.2008.10.006

Hozhabri, H., Talebi, M., Mehrjardi, M. Y. V., Luca, A., & Dehghani, M. (2020). Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. American Journal of Medical Genetics Part A, (5), 957-961. doi: 10.1002/ajmg.a.61543

Indumathi, C., Ayyar, V., & Lewin, S. (2011). Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant. Indian Journal of Endocrinology and Metabolism, 15(5), 62. doi: 10.4103 / 2230-8210.83054

Lima, D. L. F., Montenegro-Júnior, R. M., Fernandes, V. O., Barros, A. I. S., & Rêgo, D. M. (2007). Dental and periodontal alterations in Berardinelli-Seip syndrome. International Academy of Periodontology, 9(2), 63-67. Retrieved from https://europepmc.org/article/med/17506386

Lima, J. G., Nobrega, L. H. C., Lima, N. N., Santos, M. C. F., Baracho, M. F. P., & Bandeira, F. (2018). Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. Journal of Clinical Densitometry, 21(1), 61-67. doi: 10.1016 / j.jocd.2016.10.002

Medeiros, L. B. A., Dantas, V. K. C., Sarmento, A. S. C., Agnez-Lima, L. F., Meireles, A. L., & Nobre, T. T. X. (2017). High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. Diabetology & Metabolic Syndrome, 9(1), 80. doi: 10.1186 / s13098-017-0280-7

Metwalley, K. A., & Farghaly, H. S. (2014). Berardinelli-Seip syndrome type 1 in an Egyptian child. Indian Journal of Human Genetics, 20(1), 75–78. doi: 10.4103/0971-6866.132762

Oswiecimska, J., Dawidziuk, M., Gambin, T., Ziora, K., Marek, M., & Rzonca, S. (2019). A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. Journal Of Clinical Research İn Pediatric Endocrinology, 11(3), 319-326. doi: 10.4274 / jcrpe.galenos.2018.2018.0227

Parenti, I., Teresa-Rodrigo, M. E., Pozojevic, J., Gil, S. R., & Bader, I., Braunholz, D.(2017). Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Human Genetics, 136(3), 307-320. doi: 10.1007 / s00439-017-1758-y

Poovazhagi V., Shanthi S., Jahnavi S., Radha V., & Mohan, V. (2013). Berardinelli Seip congenital lipodystrophy presenting with neonatal diabetes mellitus due to a mutation in the AGPAT2 gene. International Journal of Diabetes in Developing, 33(1), 66-68. doi: 10.1007/s13410-013-0124-4

Purizaca-Rosillo, N., Mori, T., Benites-Cóndor, Y., Hisama, FM., & Martin, GM., Oshima, J. (2017). High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. American Journal of Medical Genetics,173(2). 471-478. doi: 10.1002 / ajmg.a.38053

Roth, T., Nair, S., & Kumar, A. (2010). Monogenic diabetes secondary to congenital lipodystrophy in a 14-year-old yemeni girl. Journal Of Clinical Research İn Pediatric Endocrinology, 2(4), 176-179. doi: 10.4274 / jcrpe.v2i4.176

Santos, I. C. C., Azevedo, M. F. C., & Batista, V. L. C. (2020). Síndrome de Berardinelli – Um Relato de Caso em Manaus, Amazonas. European Academic Research, 8(1), 155-163. Retrieved from www.euacademic.com

Serino, D., Davico, C., Specchio, N., Marras, C. E., & Fioretto, F. (2019). Berardinelli-Seip syndrome and progressive myoclonus epilepsy. Epileptic Disorders, 21(1), 117-121. doi: 10.1684 / epd.2019.1038

Shahbaz, A., Aziz, K., Umair, M., Malik, Z. R., Awan, S. I., & Sachmechi, I. (2018). Amyloidosis Presenting with Macroglossia. The Cureus Journal of Medical Science,10(8), e3185. doi: 10.7759 / cureus.3185

Shawky, R. M., Gamal, R., & Seifeldin, N. S. (2015). Berardinelli–Seip syndrome type 2 – An Egyptian child. Egyptian Journal of Medical Human Genetics, 16(2), 189-193. doi: 10.1016/j.ejmhg.2014.08.004

Shetty, S., Chapla A., Kapoor, N., Thomas, N., & Vizhalil-Paul, T. (2016). A Novel Variant of the Agpat2 Mutation in Generalized Congenital Lipodystrophy. Australasian Medical Journal, 9(6), 164-168. doi: 10.21767 / AMJ.2016.2640

Solanki, M., Patil, S. S., Baweja, D K., Noorani, H., & P. K. S. (2008). Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome. Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology, 105(1), 41-47. doi: 10.1016/j.tripleo.2007.07.022

Takeda, S., Elefteriou, F., Levasseur, R., Liu, X., Zhao, L., & Parker, KL. (2002). Leptin regulates bone formation via the sympathetic nervous system. Cell, 111(3), 305-317. doi: 10.1016/S0092-8674(02)01049-8

Downloads

Published

02/08/2020

How to Cite

SOUSA, L. C. de .; AMANCIO, A. de M.; SILVA, Érika G. C. da .; OLIVEIRA, F. J. D. de .; GONÇALVES, G. C.; ALMEIDA, D. R. de M. F.; SILVA, G. G. da .; PINHEIRO, J. C. Orofacial findings of congenital generalized lipodystrophy: a systematic review. Research, Society and Development, [S. l.], v. 9, n. 8, p. e903986659, 2020. DOI: 10.33448/rsd-v9i8.6659. Disponível em: https://www.rsdjournal.org/index.php/rsd/article/view/6659. Acesso em: 19 apr. 2024.

Issue

Vol. 9 No. 8

Section

Review Article

License

Copyright (c) 2020 Juliana Campos Pinheiro, Lucas Cavalcante de Sousa, Amanda de Medeiros Amancio, Érika Giovana Carvalho da Silva, Francisca Jennifer Duarte de Oliveira, Gabriel Coutinho Gonçalves, Dennys Ramon de Melo Fernandes Almeida, Gabriel Gomes da Silva

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors who publish with this journal agree to the following terms:

1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.