Caffey Disease in a Family and Disorders Related to Collagen Type 1 :
##plugins.themes.bootstrap3.article.details##
Introduction: Also called infantile cortical hyperostosis, characterized by the presence of an episode in childhood with subperiosteal neoformation in the diaphysis of long bones, jaw and clavicles.
Case description: a newborn was evaluated with clinical-radiological findings that included anterior angular deformity of the left forearm and lower limbs. The simple bone scan birth certified cortical hyperostosis with anterior curvature of the left radius, associated with important cortical thickening in the diaphysis of tibias. The control radiograph at three months of age showed a decrease in cortical hyperostosis.
The second case is a seven-year-old patient who has presented two exacerbations of cortical hyperostosis. Upon physical examination, he presented hyperextensibility of auricular pavilions, hypermobility of small joints and diffuse multiple hemosiderin spots located on the legs. The third case corresponded to an infant younger than one month three days of life, with radiography that showed the cortical hyperostosis of tibias
Conclusion: We conclude that the family with diaphyseal neoformation constitute cases of interest because it is an infrequent diagnosis in the pediatric age and whose clinical suspicion can be generated from a good clinical examination and study of the index case, supplemented with the interpretation of the genealogy associated with the molecular study that corroborates it.
infantile cortical hyperostosis, cortical bone, collagen type I, mutation.hiperostosis cortical congénita, hueso cortical, colágeno tipo I, mutación
2. Lachman R, Taybi H. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 3th ed. California: Elsevier. p.99-100.
3. OMIM. (28 de 12 de 2017). Recuperado el 2 de marzo de 2018, de Online Mendelian Inheritance in Man:https://www.omim.org/search/?index=entry&start=1&limit=10&sort=score+desc%2C+prefix_sort+desc&search=114000/, ultima visita 24-7-2018.
4. Solari A, Genética Humana, Fundamentos y aplicaciones en Medicina. 4ª ed. Buenos Aires: Panamericana; 2011. Cap 15, Anomalías genéticas de las proteinas escructurales; p.373-398.
5. Cerruti P, Venturi G, Spunton M, et al. Infantile cortical hyperostosis and COL1A1 mutation in four generations. Eur J Pediatr. 2011; 170(5); 1385-1390.
6. Gensure R, Mäkitie O, Barclay C, et al. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005; 115(5):1250-1257.
7. Hoen N, Cagneaux M, Combourieu D. et al. Prenatal Caffey disease (prenatal cortical hyperostosis): forms with favorable outcome. Prenatal diagnosis. 2015; 35(4): 409-411.
8. Kamoun A, Matinovic J, Saada J, et al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet. 2008; 146A(14): 1820-1824.
9. Ranganath P, Laine C, Gupta D. COL1A1 mutation in an Indian child with Caffey disease. Indian J Pediatr. 2011; 78(7): 877-879
10. Glorieux F. Caffey disease: an unlikely collagenopathy. J Clin Invest. 2005; 115(5): 1142-1144.
11. Nistala H, Mäkitie O, Jüppner H. Cafffey disease: new perspectives on old questions. National Institute of Health. 2015; 60(2): 246-251.
12. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007; 71(3), 280-284.
13. Stevenson R, Hall J, Everman D, Solomon, B. Human malformations and related anomalies. 13th ed. New York: Oxford University Press; 2016. Chapter 1, Limbs; p.37-112.
14. Rodríguez M, Martínez L, Cortés J, De Uña A, Vega V, Acosta M. Hiperostosis cortical infantil. Rev Chil Pediatr. 2016; 87(5), 401-405.
15. Couper R, Phee A, Morris L. Indomethacin treatment of infantile cortical periostosis in twins. J Paesdiatr Child Health. 2001; 37(3); 305-308.
16. Jones M. Recognizable patterns of malformation. Sect. U Miscellaneous sequences. In: Lyons K, Crandall M, Del Campo M. Recognizable patterns of human malformation. 7th ed. Philadelphia: Elsevier; 2013.p. 796-830.
17. Satapathy A, Pai G, Shruthi M, et al. Caffey's disease: two cases presenting with unexplained fever. Indian J of Pediatr. 2016; 83(12): 1499-1500.
18. Cho T, Moon H, Cho D, et al. The c.3040C>T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). J Hum Genet. 2008; 53(10): 947-949.
19. Navarre P, Pehlivanov I, Morin B. Recurrence of infantile cortical hyperostosis: a case report and review of the literature. J Pediatr Orthop. 2013; 33(2): 10-17.
20. Kitaoka T, Miyoshi Y, Namba N, et al. Two japanese familial cases of Caffey disease with and without the common COL1A1 mutationand normal bone density, and review of the literature. Eur J Pediatr. 2014; 173(6):789-804.
21. Lantigua A. editor. Introducción a la genética médica. La Habana: Editorial Ciencias médicas. 2011. Cap. 9, Transmisión de simples mutaciones; p.143-165.