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Dermatologic Manifestations of Rubinstein-Taybi Syndrome

  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD  more...
 
Updated: Aug 11, 2014
 

Background

In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.[1, 2, 3]

For additional information, see the Pediatrics article Rubinstein-Taybi Syndrome.

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Pathophysiology

The locus of Rubinstein-Taybi syndrome is located on band 16p13.3, which includes a gene encoding a binding protein for cyclic adenosine monophosphate–response element binding protein (CBP) (CREBBP or CBP gene) that is responsible for the phenotype of Rubinstein-Taybi syndrome. CBP spans approximately 150 kb with 31 exons, and its cDNA is 9 kb in length.[4] Genetically based growth retardation and feeding difficulties are the main problems in early life; however, respiratory tract infections and complications from congenital heart disease are primary causes of morbidity and mortality in infancy.

Milder variants of Rubinstein-Taybi syndrome have been reported, with less retardation and more subtle clinical features. These patients have been referred to as having "incomplete” Rubinstein-Taybi syndrome.

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Epidemiology

Frequency

International

The prevalence of Rubinstein-Taybi syndrome in the general population is approximately 1 case per 300,000 persons and is as high as 1 case per 10,000 live births. Cantani and Gagliesi[5] reported that Rubinstein-Taybi syndrome is not so rare and is present in approximately 1 in 600 patients seen in mental retardation clinics. Most cases of Rubinstein-Taybi syndrome are sporadic, although it has been reported in monozygotic twins. Families with more than 1 affected child are extremely rare.[6]

Mortality/Morbidity

The survival rate is good, with frequent reports of adult patients with Rubinstein-Taybi syndrome. Respiratory tract infections and complications from congenital heart disease are primary causes of morbidity and mortality in infancy. Patients with Rubinstein-Taybi syndrome have an increased risk of developing malignancies, including brain tumors (meningioma, medulloblastoma) and hematologic malignancies (leukemia).[6]

Race

Rubinstein-Taybi syndrome has no racial predilection.

Sex

Rubinstein-Taybi syndrome has no sexual predilection.

Age

The syndrome can often be recognized in the neonatal period by the typical abnormalities seen in the thumbs, the great toes, and the face.

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Contributor Information and Disclosures
Author

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 DermatoVenereologists, European Society for Dermatological Research

Disclosure: Nothing to disclose.

Coauthor(s)

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 DermatoVenereologists

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.

Specialty Editor Board

David F Butler, MD 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: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

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: Nothing to disclose.

Acknowledgements

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.

References
  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. 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].

  6. 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].

  7. 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].

  8. 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].

  9. 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].

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

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

  12. 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].

  13. 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].

  14. 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].

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

  16. 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].

  17. 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].

  18. 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].

  19. 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].

  20. 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].

 
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Facial abnormalities (eg, hypoplastic maxilla, prominent beaked nose, antimongoloid palpebral fissures) and broad thumbs in a child with Rubinstein-Taybi syndrome.
Prominent beaked nose, low-set ears, and broad thumbs in a child with Rubinstein-Taybi syndrome.
Broad great toes in a child with Rubinstein-Taybi syndrome.
 
 
 
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