Crouzon Syndrome and Acanthosis Nigricans With Fibrous Dysplasia of the Maxilla: An Unreported Suggested Triad.
Journal
The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410
Informations de publication
Date de publication:
Historique:
pubmed:
7
11
2020
medline:
24
6
2021
entrez:
6
11
2020
Statut:
ppublish
Résumé
The aim of this report is to describe the combination of Crouzon syndrome and acanthosis nigricans with fibrous dysplasia of the maxilla. The diagnosis of fibrous dysplasia was confirmed clinically and pathologically during Le Fort III osteotomy and midface advancement with distraction osteogenesis. Crouzon syndrome with acanthosis nigricans is a known syndrome with an incidence of 1:1,000,000. This is the first report in the literature of Crouzon syndrome and acanthosis nigricans combined with fibrous dysplasia. As all 3 pathologies are related to fibroblasts, they may be different manifestations of malfunction of a single molecular pathway. The detection of fibrous dysplasia in a patient with Crouzon syndrome and acanthosis nigricans is important because it may complicate midface osteotomies and fixation of the hardware on the bones during craniofacial surgery.
Identifiants
pubmed: 33156176
pii: 00001665-202102000-00073
doi: 10.1097/SCS.0000000000007095
doi:
Types de publication
Journal Article
Langues
eng
Pagination
310-312Informations de copyright
Copyright © 2020 by Mutaz B. Habal, MD.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
Références
Ciurea AV, Toader C. Genetics of craniosynostosis: review of the literature. Journal of Medicine and Life 2009; 2:5.
Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Child's Nerv Syst 2012; 28:1447–1463.
Gopal KS, Sundaram MS, Kumar PM. Crouzon syndrome-a case report of rare genetic disorder with review of literature. SAJ Case Report 2017; 4: 105. Abstract Keywords: Crouzon Syndrome.
Cohen MM, Krelborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 1992; 41:12–15.
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature genetics 1994; 8:98–103.
Mulliken JB, Steinberger D, Kunze S, Müller U. Molecular diagnosis of bilateral coronal synostosis. Plastic and Reconstructive Surgery 1999; 104:1603-1615.
Meyers GA, Orlow SJ, Munro IR, et al. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genet 1995; 11.4:462–464.
Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocrine Reviews 2000; 21:23–39.
Arnaud-López L, Fragoso J, Mantilla-Capacho J, et al. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 2007; 72:405–410.
Van HE, Fryns JE. Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. Genetic counseling (Geneva, Switzerland) 2004; 15:375–377.
Lagaude M, Barreau M, Jokic M, Gerard M, DiRocco F, Hadj-Rabia S, Verneuil L. Acanthosis nigricans in children and Crouzon syndrome. In Annales de dermatologie et de venereologie 2014; 141:685–688.
Teven CM, Farina EM, Rivas J, Reid RR. Fibroblast growth factor (FGF) signaling in development and skeletal diseases. Genes & Diseases 2014; 1:199–213.
Torley D, Bellus GA, Munro CS. Genes, growth factors and acanthosis nigricans. Br J Dermatol 2002; 147:1096–1101.
Berk DR, Spector EB, Bayliss SJ. Familial acanthosis nigricans due to K650T FGFR3 mutation. Archives of dermatology 2007; 143:1153–1156.
Fukuchi K, Tatsuno K, Matsushita K, et al. Familial acanthosis nigricans with p.K650T FGFR3 mutation. J Dermatol 2018; 45:207–210.
Lee GS, Park SQ, Kim R, et al. Unexpected Severe Cerebral Edema after Cranioplasty: Case Report and Literature Review. J Korean Neurosurg Soc 2015; 58:76–78.
Ito S, Sekido K, Kanno H, et al. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations. J Neurosurg 2005; 102:23–30.
Goodrich JT, Orlow S, Staffenberg D, Marion R, Eisig S, Shanske A. (1999, October). Unusual distribution of acanthosis nigricans in the Crouzonodermoskeletal syndrome. In American Journal of Human Genetics (vol. 65, no. 4, pp. a150-a150). 5720 South Woodlawn Ave, Chicago, IL 60637–1603 Usa: Univ Chicago press.
Xu W, McDonald-McGinn DM, Melchiorre AJ, et al. Crouzon with acanthosis nigricans and odontogenic tumors: a rare form of syndromic craniosynostosis. Cleft Palate-Craniofacial J 2018; 55:296–300.
Anitha N, Sankari SL, Malathi L, Karthick R. Fibrous dysplasia-recent concepts. Journal of Pharmacy & Bioallied Sciences 2015; 7(Suppl 1):S171.
Copley, Lawson, Dormans John P. Benign pediatric bone tumors: evaluation and treatment. Pediatr Clin 1996; 43.4:949–966.
Chen YR, Chang CN, Tan YC. Craniofacial Fibrous Dysplasia: An Update.
Valentini V, Cassoni A, Marianetti TM, Terenzi V, Fadda MT, Iannetti G. Craniomaxillofacial fibrous dysplasia: conservative treatment or radical surgery? A retrospective study on 68 patients. Plastic and Reconstructive Surgery 2009; 123:653–660.
Feller L, Wood NH, Khammissa RA, et al. The nature of fibrous dysplasia. Head Face Med 2009; 5:22.
Menon S, Venkatswamy S, Ramu V, Banu K, Ehtaih S, Kashyap VM. Craniofacial fibrous dysplasia: Surgery and literature review. Annals of Maxillofacial Surgery 2013; 3:66.
White SC, Pharoah MJ. Oral Radiology: Principles and Interpretation by Stuart White and Michael Pharaoh. 1982.
Demirhan O, Arslan A, Sagliker Y, et al. MP386 multiple gene mutations in GNAS1, FGF23 and FGFR3 genes in CKD patients with SH sagliker syndrome. Nephrol Dial Transplant 2016; 31:i468–i1468.
Lachman RS. International nomenclature and classification of the osteochondrodysplasias (1997). Pediatr Radiol 1998; 28:737–744.
Demirhan O, Arslan A, Sagliker Y, et al. MP386 multiple gene mutations in GNAS1, FGF23 and FGFR3 genes in CKD patients with SH sagliker syndrome. 2016