Rosselli-Gulienetti syndrome

background

Rosselli-Gulienetti syndrome (RGS) is a form of ectodermal dysplasia, one of a group of syndromes deriving from abnormalities of the ectodermal structures, which include the hair, teeth, nails, sweat glands, cranial-facial structure, and hands. These are genetic disorders that can be inherited in an autosomal dominant or recessive manner.
Symptoms of RGS include reduced or absent ability to sweat, facial abnormalities, and defects in the hair, teeth, nails, fingers, toes, and urinary tract. Specifically, symptoms of RGS include cleft lip or palate, intellectual disability, fused eyelids, absent nails, delayed bone growth, urogenital abnormalities, and dry skin. This is a congenital disorder and is present at birth.
RGS is an inherited genetic disease, which means that is passed down among family members. There are reports that it is caused by a mutation or defect in the PVRL1 gene, which provides instructions for making the protein nectin-1. Nectin-1 is an immunoglobulin-like adhesion molecule that is widely expressed in epithelial tissues, and it participates in forming the adherens junctions, which serve to connect cells within the skin.
RGS follows an autosomal recessive pattern of inheritance, meaning that two copies of the defective gene, one from the mother and one from the father, must be inherited for the disease to appear.
RGS is extremely rare, and its exact incidence is unknown. It was first described by the researchers Rosselli and Gulienetti in 1961. There were nine known cases as of 1988. Males and females are affected in equal numbers. Its incidence tends to be higher in children of parents who are consanguineous (closely related or sharing genetic material).
The long-term prognosis for people with RGS is largely unknown because there are so few cases. If symptoms are managed and complications prevented, people with RGS should enjoy long, healthy lives.

Related Terms

Bowen-Armstrong syndrome, cleft lip/palate-ectodermal dysplasia syndrome, CLPED1, consanguinity, ectodermal dysplasia, ectodermal dysplasia cleft lip and palate mental retardation and syndactyly, Margarita Island ectodermal dysplasia, PVRL1, Rosselli-Gulienetti syndrome, Zlotogora-Ogur syndrome.