Dermatologic Manifestations of Rubinstein-Taybi Syndrome
- Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD more...
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.
For additional information, see the Pediatrics article Rubinstein-Taybi Syndrome.
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.[1] 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.
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[2] 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.
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.
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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