Craniofacial and Cutaneous Findings in Noonan, Costello and LEOPARD Syndromes

Overview

Journal Postepy Dermatol Alergol

Publisher Termedia

Specialty Allergy & Immunology

Date 2018 Nov 16

PMID 30429698

Authors

Rafal Pokrowiecki

Piotr Chomik

Maciej Borowiec

Krzysztof Dowgierd

Anna Starzynska

Affiliations

Soon will be listed here.

Abstract

Noonan, Costello and LEOPARD syndromes belong to a family of cardiofaciocutaneous disorders and share common genetic traits. As they are associated with a germline mutation in genes encoding proteins involved in RAS/MAPK, patients suffering from these syndromes are at a greater risk of cancer and abnormal myelopoiesis in infancy. Patients with cardio faciocutaneous syndromes share some clinically overlapping syndromes, therefore differential diagnosis can be problematic. In this paper we aim at demonstrating distinctive craniofacial and cutaneous manifestations of Noonan, Costello and LEOPARD syndromes which can be useful for clinicians who aim at treatment of children with rare diseases.

References

van den Berg H, Schreuder W, Jongmans M, van Bommel-Slee D, Witsenburg B, de Lange J . Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. Eur J Med Genet. 2016; 59(8):425-8. DOI: 10.1016/j.ejmg.2016.05.013. View

Denayer E, Legius E . What's new in the neuro-cardio-facial-cutaneous syndromes?. Eur J Pediatr. 2007; 166(11):1091-8. DOI: 10.1007/s00431-007-0535-7. View

Della Marca G, Vasta I, Scarano E, Rigante M, De Feo E, Mariotti P . Obstructive sleep apnea in Costello syndrome. Am J Med Genet A. 2006; 140(3):257-62. DOI: 10.1002/ajmg.a.31076. View

Niemeyer C . RAS diseases in children. Haematologica. 2014; 99(11):1653-62. PMC: 4222471. DOI: 10.3324/haematol.2014.114595. View

Bessis D . [Neuro-cardio-facial-cutaneous syndrome]. Ann Dermatol Venereol. 2011; 138(6-7):483-93. DOI: 10.1016/j.annder.2011.02.029. View

Umans S, DECOCK P, Fryns J . Costello syndrome: the natural history of a true postnatal growth retardation syndrome. Genet Couns. 1995; 6(2):121-5. View

Allanson J, Bohring A, Dorr H, Dufke A, Gillessen-Kaesbach G, Horn D . The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A. 2010; 152A(8):1960-6. PMC: 3115585. DOI: 10.1002/ajmg.a.33518. View

Gripp K, Scott Jr C, Nicholson L, McDonald-McGinn D, Ozeran J, Jones M . Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002; 108(1):80-7. DOI: 10.1002/ajmg.10241. View

Aoki Y, Niihori T, Inoue S, Matsubara Y . Recent advances in RASopathies. J Hum Genet. 2015; 61(1):33-9. DOI: 10.1038/jhg.2015.114. View

10.

Allanson J, Hall J, Hughes H, Preus M, Witt R . Noonan syndrome: the changing phenotype. Am J Med Genet. 1985; 21(3):507-14. DOI: 10.1002/ajmg.1320210313. View

11.

Lenane P, Powell F . Oral pigmentation. J Eur Acad Dermatol Venereol. 2001; 14(6):448-65. DOI: 10.1046/j.1468-3083.2000.00143.x. View

12.

White S, Graham Jr J, Kerr B, Gripp K, Weksberg R, Cytrynbaum C . The adult phenotype in Costello syndrome. Am J Med Genet A. 2005; 136(2):128-35. DOI: 10.1002/ajmg.a.30747. View

13.

Digilio M, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B . Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002; 71(2):389-94. PMC: 379170. DOI: 10.1086/341528. View

14.

Chong W, Klanwarin W, Giam Y . Generalized lentiginosis in two children lacking systemic associations: case report and review of the literature. Pediatr Dermatol. 2004; 21(2):139-45. DOI: 10.1111/j.0736-8046.2004.21211.x. View

15.

Rodriguez-Bujaldon A, Vazquez-Bayo C, Jimenez-Puya R, Galan-Gutierrez M, Moreno-Gimenez J, Rodriguez-Garcia A . LEOPARD syndrome: what are café noir spots?. Pediatr Dermatol. 2008; 25(4):444-8. DOI: 10.1111/j.1525-1470.2008.00734.x. View

16.

Siegel D, Mann J, Krol A, Rauen K . Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development. Br J Dermatol. 2011; 166(3):601-7. PMC: 4063554. DOI: 10.1111/j.1365-2133.2011.10744.x. View

17.

Hennekam R . Costello syndrome: an overview. Am J Med Genet C Semin Med Genet. 2003; 117C(1):42-8. DOI: 10.1002/ajmg.c.10019. View

18.

Addissie Y, Kotecha U, Hart R, Martinez A, Kruszka P, Muenke M . Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. Am J Med Genet A. 2015; 167A(11):2657-63. DOI: 10.1002/ajmg.a.37259. View

19.

Khirani S, Leboulanger N, Ramirez A, Fauroux B . Life-threatening obstructive sleep apnea caused by adenoid hypertrophy in an infant with noonan syndrome. Case Rep Pediatr. 2012; 2012:514514. PMC: 3502807. DOI: 10.1155/2012/514514. View

20.

Wolvius E, de Lange J, Smeets E, van der Wal K, van den Akker H . Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature. J Oral Maxillofac Surg. 2006; 64(8):1289-92. DOI: 10.1016/j.joms.2006.04.025. View