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Information sheet about Rothmund-Thomson Syndrome (RTS)

Other Names

Poikiloderma of Rothmund-Thomson; Poikiloderma atrophicans and cataract; Poikiloderma Congenitale; congenital poikiloderma; poikiloderma congenitale of Rothmund-Thomson; RTS.

Categories

Congenital and Genetic Diseases.

Signs and Symptoms

Rothmund-Thomson syndrome (RTS) is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth.

Signs and symptoms of RTS vary and may include:

  • Facial rash (poikiloderma) and rash elsewhere including thinning of skin (atrophy) and clusters of blood vessels close to the surface of the skin (telangiectases).
  • Sparse hair, eyelashes, and/or eyebrows.
  • Short stature.
  • Bone and dental abnormalities.
  • Clouding of the lens of the eye (cataract) which affects vision.
  • Increased risk of developing cancer, particularly bone cancer (osteosarcoma) and non-melanoma skin cancers.
  • Sensitivity to the sun.
  • Gastrointestinal and feeding problems of infants and young children.
  • Presence of hypogonadism where there is reduced activity of the ovaries in females or testes in males; resulting in irregular menstruation, delayed sexual development or reduced fertility.

Cause/Inheritance

  • Mutations in the RECQL4 gene cause about two-thirds of all RTS cases.
  • In some cases, people with RTS have chromosomal abnormalities in chromosome 7 and chromosome 8 (there may be extra or missing genetic material in these chromosomes).
  • RTS is inherited in an autosomal recessive pattern which means that the affected person inherits one copy of the gene from each parent. The parents typically don’t show signs or symptoms of the condition (each parent is considered an unaffected carrier of the gene).

Treatment and Management

Treatment of RTS is based on the symptoms present for each person. Often treatment will involve numerous specialists which may include:

  • Dermatologists (diagnosis and treatment of disorders of the skin)
  • Geneticists (specialists in genetic disorders)
  • Ophthalmologists (eye specialists)
  • Orthopaedists (specialists who diagnose and treat bone disorders)
  • Dental specialists.

A combination of treatments and therapies may be recommended which may include:

  • Use of sunscreen, sunglasses (protection from sun exposure)
  • Laser treatment for skin abnormalities
  • Surgery for cataracts
  • Standard treatment for cancer
  • Surgery or use of dentures for dental abnormalities.

Support Contacts Australia

Australian Ectodermal Dysplasia Support Group http://mail.ozed.org.au/index.htm

Support Contacts International

Rothmund-Thomson Syndrome Foundation http://rtsplace.org

Ectodermal Dysplasia Society http://www.ectodermaldysplasia.org

National Foundation for Ectodermal Dysplasias http://nfed.org

Genetic Skin Disease Clinic (Stanford Medicine Dermatology) http://med.stanford.edu/dermatology/resources/gsdc/genetic_skin_diseases_clinic.html

Facebook Support

Rothmund-Thomson Syndrome Support Group https://www.facebook.com/Rothmund-Thomson-Syndrome-Support-Group-RTS-Groupies-122876597763712/

ozED – Australian Ectodermal Dysplasia Support Group https://www.facebook.com/groups/34955153863/?bookmark_t=group

Sources

Genetics Home Reference https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome#synonyms

National Organisation for Rare Disorders https://rarediseases.org/rare-diseases/rothmund-thomson-syndrome/

Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/4392/rothmund-thomson-syndrome

 

Disclaimer: This information is for general use only and is not meant to be a substitute for seeking professional care in the diagnosis, treatment and management of this condition.

Last update June 2018