Dermatologic Manifestations of Rubinstein-Taybi Syndrome
- Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: William D James, MD more...
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.
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. 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.
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 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.
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).
Rubinstein-Taybi syndrome has no racial predilection.
Rubinstein-Taybi syndrome has no sexual predilection.
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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