Dermatologic Manifestations of Rubinstein-Taybi Syndrome Treatment & Management

  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD   more...
 
Updated: Aug 16, 2011
 

Medical Care

The wide spectrum of clinical manifestations requires disease management tailored to the problems of each patient. Physical therapy, speech and feeding therapy, and special education are important supportive measures in infancy.

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Surgical Care

Individualize surgical treatment based on findings in the patient. For example, a patient with a congenital heart defect may need cardiothoracic intervention.

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Consultations

Note the following:

  • Prenatal testing for at-risk pregnancies: This is possible if the disease-causing CBP mutation or deletion in the family is known.
  • Consult a cardiologist for evaluation of congenital heart disease
  • Consult a neurologist for evaluation of EEG and other neurologic abnormalities
  • Consult an ophthalmologist for evaluation of eye abnormalities
  • Consult an orthopedist for evaluation of skeletal abnormalities
  • Consult a pediatric dentist every 6 months beginning at age 1 year[16]
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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: European Academy of Dermatology and Venereology, European Society for Dermatological Research, International Society of Dermatology, and Serbian Association of DermatoVenereologists

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, and 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

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.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

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

Disclosure: Elsevier Royalty Other

References

  1. 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. Mar 2000;37(3):168-76. [Medline].

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

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

  4. 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. Oct 2000;84(10):1177-84. [Medline].

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

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

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

  8. 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. Sep 2004;18(5):607-10. [Medline].

  9. 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. Mar-Apr 1999;16(2):134-6. [Medline].

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

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

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

  13. 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. Jan 2011;19(1):43-9. [Medline]. [Full Text].

  14. 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. Jan 3 2000;90(1):29-34. [Medline].

  15. 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. Apr 2005;76(4):572-80. [Medline].

  16. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. Jun 1 2003;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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