Relato de caso de osteopoiquilose na atenção primária à saúde

Dara Sarubi Almeida; Alana Kalb Rodrigues Moscatelli; Ibrahim Clós Mahmud

doi:10.15448/1980-6108.2025.1.47282

Authors

Dara Sarubi Almeida Feevale University, Novo Hamburgo, RS, Brazil https://orcid.org/0009-0006-7819-6893
Alana Kalb Rodrigues Moscatelli Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil. https://orcid.org/0000-0001-5100-5774
Ibrahim Clós Mahmud Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil. https://orcid.org/0000-0002-2631-2964

DOI:

https://doi.org/10.15448/1980-6108.2025.1.47282

Keywords:

primary health care, osteopoikilosis, bone diseases, public health.

Abstract

Osteopoikilosis, also known as spotted bone disease or disseminated condensing osteopathy, is an asymptomatic disease characterized by osteosclerotic dysplasia. It is a rare genetic disease with an autosomal dominant inheritance pattern, a prevalence of 1-9/100,000 and is related to the LEMD3 gene. The following study is a case report of a 41-year-old adult patient with chronic pain in her lower limbs, followed by a differential diagnosis of osteopoikilosis at the Primary Health Care Center in the municipality of Campo Bom, Rio Grande do Sul. This highlights the importance of improving care for people with osteopoikilosis and other rare diseases at all levels of health care.

Downloads

Download data is not yet available.

Author Biographies

Dara Sarubi Almeida, Feevale University, Novo Hamburgo, RS, Brazil

Medical Student at Feevale University

Alana Kalb Rodrigues Moscatelli, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Acadêmica de Medicina da Universidade Feevale.

Ibrahim Clós Mahmud, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Family and community physician. PhD and Master's degree in Biomedical Gerontology from the School of Medicine of the Pontifical Catholic University of Rio Grande do Sul (PUCRS). Researcher affiliated with the PUCRS School of Medicine.

References

1. Pizzol ND, Pizzol MM. Osteopoiquilose: relato de caso. Rev Bras Ortop. 2002;37(10):467-9. Disponível em: https://cdn.publisher.gn1.link/rbo.org.br/pdf/37-9/2002_out_04.pdf

2. Whyte MP, Griffith M, Trani L, Mumm S, Gottesman GS, McAlister WL et al. Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. Bone. 2017;101:145-55. https://doi.org/10.1016/j.bone.2017.04.010 DOI: https://doi.org/10.1016/j.bone.2017.04.010

3. Korkmaz MF, Elli M, Özkan MB, Bilgici MC, Dağdemir A, Korkmaz M et al. Osteopoikilosis: report of a familial case and review of the literature. Rheumatol Int. 2015;35(5):921-4. https://doi.org/10.1007/s00296-014-3160-6 DOI: https://doi.org/10.1007/s00296-014-3160-6

4. Orphanet. Osteopoiquilose isolada [Internet]. Brasília: Orphanet; 2023 [Citado 2024 dez 16]. Disponível em: https://www.orpha.net/pt/disease/detail/166119?name=Osteopoiquilose%20isolada&mode=name

5. Chun N, Schwartzman L, Moadel R, Haigentz M. Osteopoikilosis: A benign condition with the appearance of metastatic bone disease. J Clin Oncol. 2015;33(18):e77-8. https://doi.org/10.1200/JCO.2013.50.5222 DOI: https://doi.org/10.1200/JCO.2013.50.5222

6. Liu S, Zhou X, Song A, Huo Z, Liu Y, Wang Y. Osteopoikilosis. Postgrad Med J. 2019;95(1130):679. https://doi.org/10.1136/postgradmedj-2019-136705 DOI: https://doi.org/10.1136/postgradmedj-2019-136705

7. Llanos PS, Hernandez CS. Osteopoiquilia. Rev Clín Med Fam. 2017;10(2):145-9. Disponível em: https://scielo.isciii.es/pdf/albacete/v10n2/1699-695X-albacete-10-02-145.pdf

8. Mohsenpour B, Ahmadi A. Osteopoikilosis: a case report. J Med Case Rep. 2023;17(1):1-6. https://doi.org/10.1186/s13256-023-04025-6 DOI: https://doi.org/10.1186/s13256-023-04025-6

9. Torregrosa Calatayud JL, Ladaria JG, Bosch IF, Miquel VA. Síndrome de Buschke-Ollendorff. An Pediatr. 2014;81(6):e55-7 https://doi.org/10.1016/j.anpedi.2014.03.001 DOI: https://doi.org/10.1016/j.anpedi.2014.03.001

10. Stumm P, de Almeida H, Heidmann N. Síndrome de Buschke-Ollendorff. An Bras Dermatol. 2000;75(3):347-51.

11. Carvalho ACP, Beze RS, Picinini SE. Osteopoiquilose: apresentação de um caso e revisão da literatura. Radiol Bras. 2002;35(3):191-2. https://doi.org/10.1590/S0100-39842002000300013 DOI: https://doi.org/10.1590/S0100-39842002000300013

12. Starfield B, Shi L, Macinko J. Contribution of primary care to health systems and health. Milbank Q. 2005;83(3):457-502. https://doi.org/10.1111/j.1468-0009.2005.00409.x DOI: https://doi.org/10.1111/j.1468-0009.2005.00409.x

13. Brasil. Ministério da Saúde. Portaria GM/MS nº 199, de 30 de janeiro de 2014. Institui a Política Nacional de Atenção Básica [Internet]. Brasília: Ministério da Saúde; 2014 [Citado 2024 dez 16]. Disponível em: https://bvsms.saude.gov.br/bvs/publicacoes/diretrizes_atencao_integral_pessoa_doencas_raras_SUS.pdf

14. Cravo AR, Villacreses CV, Canas da Silva J. Osteopoquilose: dois casos clínicos. Acta Reum Port. 2006;31(3):256-60. Disponível em: https://www.arprheumatology.com/oldsite/conteudo/pdfs/ARP_2006_4_256_CC_-_Osteopoiquilose_.pdf

15. Blanco LF, Gurgel B, Batista F, Lopes F, Souza P, Junior AFC. Osteopoiquilose em paciente com neoplasia invasiva de mama. Alasbimn Journal. 2022. Disponível em: http://www.alasbimnjournal.net/a/224