Dermatologic Manifestations of Rubinstein-Taybi Syndrome Differential Diagnoses

1. Bedeschi MF, Crippa BL, Colombo L, Guez S, Cerruti M, Fogliani R, et al. Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report. Am J Med Genet A. 2014 Jul 29. [Medline].

2. Beets L, Rodríguez-Fonseca C, Hennekam RC. Growth charts for individuals with Rubinstein-Taybi syndrome. Am J Med Genet A. 2014 Jul 2. [Medline].

3. Tirali RE, Sar C, Cehreli B. Oro-facio-dental findings of rubinstein-taybi syndrome as a useful diagnostic feature. J Clin Diagn Res. 2014 Jan. 8(1):276-8. [Medline]. [Full Text].

4. Petrij F, Dauwerse HG, Blough RI, et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. 2000 Mar. 37(3):168-76. [Medline].

5. Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, et al. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Clin Dysmorphol. 2016 Oct. 25 (4):135-45. [Medline].

6. Spena S, Gervasini C, Milani D. Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. J Pediatr Genet. 2015 Sep. 4 (3):177-86. [Medline].

7. Fergelot P, Van Belzen M, Van Gils et al. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016 Dec. 170 (12):3069-3082. [Medline].

8. Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, et al. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Clin Dysmorphol. 2016 Oct. 25 (4):135-45. [Medline].

9. López M, García-Oguiza A, Armstrong J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, et al. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. BMC Med Genet. 2018 Mar 5. 19 (1):36. [Medline].

10. Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, et al. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011 Jan. 19(1):43-9. [Medline]. [Full Text].

11. Blough RI, Petrij F, Dauwerse JG, et al. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. Am J Med Genet. 2000 Jan 3. 90(1):29-34. [Medline].

12. Roelfsema JH, White SJ, Ariyürek Y, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr. 76(4):572-80. [Medline].

13. Cantani A, Gagliesi D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur Rev Med Pharmacol Sci. 1998 Mar-Apr. 2(2):81-7. [Medline].

14. Kumar S, Suthar R, Panigrahi I, Marwaha RK. Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature. Indian J Hum Genet. 2012 May. 18(2):161-6. [Medline]. [Full Text].

15. Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, et al. Benign and malignant tumors in Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 Mar. 176 (3):597-608. [Medline].

16. Wood VE, Rubinstein J. Duplicated longitudinal bracketed epiphysis "kissing delta phalanx" in Rubinstein-Taybi syndrome. J Pediatr Orthop. 1999 Sep-Oct. 19(5):603-6. [Medline].

17. van Genderen MM, Kinds GF, Riemslag FC, Hennekam RC. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. 2000 Oct. 84(10):1177-84. [Medline].

18. Schorry EK, Keddache M, Lanphear N, et al. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1. 146A(19):2512-9. [Medline].

19. Sener RN. Bilateral extra tarsal bones in Rubinstein-Taybi syndrome: the fourth cuneiform bones. Eur Radiol. 1999. 9(3):483-4. [Medline].

20. Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989. 17(6):485-91. [Medline].

21. Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. Multiple perforating and non perforating pilomatricomas in a patient with Churg-Strauss syndrome and Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. 2004 Sep. 18(5):607-10. [Medline].

22. Gomez Centeno P, Roson E, Peteiro C, Mercedes Pereiro M, Toribio J. Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. Pediatr Dermatol. 1999 Mar-Apr. 16(2):134-6. [Medline].

23. Nakai K, Yoneda K, Moriue T, Kubota Y. Striate palmoplantar keratoderma in a patient with Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. 2008 Jul 9. [Medline].

24. Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. 1995 Nov 20. 59(3):346-8. [Medline].

25. Verstegen MJ, van den Munckhof P, Troost D, Bouma GJ. Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report. J Neurosurg. 2005 Jan. 102(1):167-8. [Medline].

26. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003 Jun 1. 119A(2):101-10. [Medline].

Zeljko P Mijuskovic, MD, PhD Associate Professor of Dermatology, Department of Dermatology and Venereology, Military Medical Academy, Serbia

Zeljko P Mijuskovic, MD, PhD is a member of the following medical societies: International Society of Dermatology, European Academy of Dermatology and Venereology, Serbian Association of Dermatorvenerologists, European Society for Dermatological Research

Disclosure: Nothing to disclose.

Djordjije Karadaglic, MD, DSc Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro

Djordjije Karadaglic, MD, DSc is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, Serbian Association of Dermatorvenerologists

Disclosure: Nothing to disclose.

Ljubomir Stojanov, MD, PhD Lecturer in Metabolism and Clinical Genetics, University of Belgrade School of Medicine, Serbia

Disclosure: Nothing to disclose.

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article