Lidia Larizza, Gaia Roversi, Ludovica Volpi

Rothmund Thomson Syndrome (RTS)

Article
Diseases & Conditions
Congenital & Genetic Disorders
+1
Contributed byMaulik P. Purohit MD MPHDec 17, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Congenital Poikiloderma
  • Poikiloderma Atrophicans and Cataract
  • Poikiloderma Congenitale

What is Rothmund Thomson Syndrome? (Definition/Background Information)

  • Rothmund Thomson Syndrome (RTS) is an extremely rare, inherited genetic condition that is characterized by a collection of disorders that involves the skin, skeleton, and eye. It presents symptoms of early ageing and renders the body vulnerable to many cancerous growths
  • RTS is an autosomal recessive abnormality, which means that the faulty genes have to be inherited from both the parents for the condition to manifest in the child
  • A distinct feature of this disorder is the skin rashes that develop due to acute sun-sensitivity. The skin appears with variable pigmented patches
  • A symptomatic treatment of the signs and symptoms is undertaken, with surgical procedures being adopted for severe eye, teeth, or bone abnormalities. The prognosis is based on the severity of the symptoms

Who gets Rothmund Thomson Syndrome? (Age and Sex Distribution)

  • Rothmund Thomson Syndrome is an infrequent disorder manifested at birth; around 300 cases have been reported globally
  • RTS affects males slightly more than females; the male to female incidence ratio is 2:1
  • There are no available statistics on any particular ethnic or racial preference

What are the Risk Factors for Rothmund Thomson Syndrome? (Predisposing Factors)

The risk factor for Rothmund Thomson Syndrome includes the following:

  • Children born in families with a history of the condition are at risk
  • No other risk factors have been currently noted

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Rothmund Thomson Syndrome? (Etiology)

  • The presence of chromosomal aberrations and gene mutations on the band of chromosome 8 have linked genetic factors, as the cause of Rothmund Thomson Syndrome
  • As a result of this mutation, certain complex proteins are produced that cause replication of some DNA material. This is said to be interconnected with a development of the syndrome, in about 70% of the cases
  • Both parents have to be affected with, or be carriers of the defective genes, for their offspring to be affected by RTS; a feature known as autosomal recessive
  • The disorder may have a mild, moderate, or severe expression, depending on the magnitude of the defect. The reason why some individuals have severe symptoms, while others have mild symptoms, remains unknown

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Rothmund Thomson Syndrome?

The signs and symptoms of Rothmund Thomson Syndrome are:

  • Red skin rashes due to variable pigmentation, observed at around 3-6 months of age (this may occur as a result of sun-exposure). The rashes occur on the hands, legs, and buttocks, and may be accompanied by an inflammatory response
  • The rashes progressively deteriorate causing skin tissue to ‘waste away’. This is accompanied by red spider-like patterns of blood vessels, and later the skin appears completely spotted and worn out
  • Short stature, slow rate of growth
  • Premature ageing signs like grey hair, sparse eyebrows and eyelashes, hair loss
  • Juvenile cataracts - young children have clouded eyes with a potential for complete vision loss
  • Skeletal defects with short forearms, absent thumbs, hand and leg bones may be abnormally jointed, big forehead, sunken nose
  • Tooth and nail defects
  • Infants may have gastrointestinal disorders, leading to longstanding vomiting and diarrhea

How is Rothmund Thomson Syndrome Diagnosed?

Diagnostic tools for Rothmund Thomson Syndrome include:

  • Physical examination, evaluation of the child’s family medical history
  • Genetic analysis to detect Rothmund Thomson Syndrome
  • X-ray studies (of the skeletal system)
  • Differential diagnosis, to eliminate other skin condition types is considered, before arriving at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Rothmund Thomson Syndrome?

Complications from Rothmund Thomson Syndrome could include:

  • High susceptibility to many types of bone cancer, like osteosarcoma
  • Exposure to sun may cause skin cancer
  • Total loss of vision
  • Serious bone defects affecting mobility, performance of normal physical activities
  • Sex glands may be dysfunctional
  • Acute sensitivity to chemotherapy and radiation therapy, resulting in more frequent and severe side effects

How is Rothmund Thomson Syndrome Treated?

Symptomatic treatment and management of Rothmund Thomson Syndrome presentation is usually followed. The condition is closely monitored and a case-by-case individualized treatment approach rendered. RTS treatment may include:

  • Surgical intervention for severe cataracts; for other cases, visual aids may be used
  • Use of sunscreen ointments and topical applications for skin condition and light sensitivity. Laser treatment may be used to mitigate the skin rashes
  • Teeth-related defects are rectified by dental corrections - either through surgery, or through the use of prosthetic devices, dentures, etc.
  • Bone-related and skeletal defects may require special therapy sessions, surgery, the use of walking aids and prosthetics

How can Rothmund Thomson Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Rothmund Thomson Syndrome genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Rothmund Thomson Syndrome? (Outcomes/Resolutions)

  • Current medical and healthcare advances have helped those suffering from Rothmund Thomson Syndrome and the condition can be treated to a large extent. Children with this disorder can have a normal quality of life
  • Mental growth is not usually affected, although a stunted physical growth may be apparent
  • The initial period of infancy requires a close monitor and any complications that arise, has to be averted. Once this period passes, the disorder may progress to a more stable condition
  • Children with bone cancers that appear later in their life, do not have a good prognosis. Additionally, severe cases of Rothmund Thomson Syndrome can be fatal. Hence, the prognosis for RTS is generally guarded

Additional and Relevant Useful Information for Rothmund Thomson Syndrome:

  • The highest risk from any form of cancer, in individuals with Rothmund Thomson Syndrome, is between the ages of 10-20 years. The mortality rate is high in such cases
  • Osteosarcoma forms a class of highly-cancerous, high-mortality, bone tumor. After multiple myeloma, it is the second-most common primary tumor of the bones
Was this article helpful

On the Article

Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

0 Comments

Please log in to post a comment.

Related Articles

Test Your Knowledge

Asked by users

Related Centers

Loading

Related Specialties

Loading card

Related Physicians

Related Procedures

Related Resources

Join DoveHubs

and connect with fellow professionals

Related Directories

Who we are

At DoveMed, our utmost priority is your well-being. We are an online medical resource dedicated to providing you with accurate and up-to-date information on a wide range of medical topics. But we're more than just an information hub - we genuinely care about your health journey. That's why we offer a variety of products tailored for both healthcare consumers and professionals, because we believe in empowering everyone involved in the care process.
Our mission is to create a user-friendly healthcare technology portal that helps you make better decisions about your overall health and well-being. We understand that navigating the complexities of healthcare can be overwhelming, so we strive to be a reliable and compassionate companion on your path to wellness.
As an impartial and trusted online resource, we connect healthcare seekers, physicians, and hospitals in a marketplace that promotes a higher quality, easy-to-use healthcare experience. You can trust that our content is unbiased and impartial, as it is trusted by physicians, researchers, and university professors around the globe. Importantly, we are not influenced or owned by any pharmaceutical, medical, or media companies. At DoveMed, we are a group of passionate individuals who deeply care about improving health and wellness for people everywhere. Your well-being is at the heart of everything we do.

© 2023 DoveMed. All rights reserved. It is not the intention of DoveMed to provide specific medical advice. DoveMed urges its users to consult a qualified healthcare professional for diagnosis and answers to their personal medical questions. Always call 911 (or your local emergency number) if you have a medical emergency!