Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma.
Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA.
Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. About 300 people with this condition have been reported worldwide in scientific studies.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Elisa Colombo is in Milan, Italy. Colombo is rated as a Distinguished expert by MediFind in the treatment of Rothmund-Thomson Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are PARC Syndrome, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, and Otopalatodigital Syndrome Type 1.
Lidia Larizza is in Milan, Italy. Larizza is rated as a Distinguished expert by MediFind in the treatment of Rothmund-Thomson Syndrome. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are PARC Syndrome, Otopalatodigital Syndrome Type 1, Rothmund-Thomson Syndrome, and Rubinstein-Taybi Syndrome.
Anil Prasad is an Internal Medicine doctor in Nashua, New Hampshire. Dr. Prasad has been practicing medicine for over 33 years and is rated as a Distinguished doctor by MediFind in the treatment of Rothmund-Thomson Syndrome. He is also highly rated in 42 other conditions, according to our data. His top areas of expertise are Hyperelastic Skin, Dyskeratosis Congenita, Hoyeraal Hreidarsson Syndrome, and Darier Disease. He is licensed to treat patients in New Hampshire. Dr. Prasad is currently accepting new patients.
Published Date: August 01, 2013Published By: National Institutes of Health