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Rothmund-Thomson syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome is a rare genetic disorder characterized by a distinctive childhood skin rash that spreads and persists for life, alongside skeletal abnormalities and an increased risk of bone and skin cancers.

Overview

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.

Symptoms and Characteristics

The signs and symptoms of Rothmund-Thomson syndrome can vary widely but commonly include:

  • Skin abnormalities: The characteristic rash (poikiloderma) featuring redness, patchy coloration, skin thinning, and prominent blood vessels.
  • Hair, nail, and teeth issues: Abnormalities affecting the hair, eyebrows, eyelashes, teeth, and nails.
  • Growth and development: Slow growth and small stature.
  • Gastrointestinal problems: Chronic diarrhea and vomiting during infancy.
  • Vision issues: Clouding of the lens of the eye (cataracts) in some affected children, which impacts vision.
  • Skeletal abnormalities: Absent, malformed, or fused bones, and low bone mineral density (osteopenia). Some individuals experience radial ray malformations, which affect the development of bones in the forearms and the thumbs.

Cancer Risk

People with Rothmund-Thomson syndrome have an increased risk of developing cancer. This particularly includes a form of bone cancer called osteosarcoma, which most often develops during childhood or adolescence. Several types of skin cancer, including squamous cell carcinoma, are also more common in people with this disorder.

Overlapping Conditions

The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth, and all can be caused by mutations in the same gene. Researchers are investigating whether these are separate disorders or part of a single syndrome with overlapping features.

Frequency

Rothmund-Thomson syndrome is a rare disorder with an unknown incidence. Approximately 300 people with this condition have been reported worldwide in scientific studies.

Causes

Mutations in the RECQL4 gene cause about two-thirds of all cases of Rothmund-Thomson syndrome. This gene provides instructions for making a protein that belongs to the RecQ helicases family. Helicases are enzymes that bind to DNA and temporarily unwind the double helix structure, a process necessary for DNA replication in preparation for cell division, as well as for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information and plays a key role in replicating and repairing DNA.

Mutations in the RECQL4 gene lead to an abnormally short, nonfunctional version of the protein or prevent cells from making it at all. This shortage of functional RECQL4 protein may prevent normal DNA replication and repair, causing widespread genetic damage over time. It remains unclear exactly how this loss of protein activity leads to the specific features of the syndrome.

In about one-third of individuals with Rothmund-Thomson syndrome, no mutation in the RECQL4 gene has been identified. The cause in these cases is unknown, though researchers suspect mutations in a related gene may be responsible.

Additionally, some affected individuals have chromosomal abnormalities, such as extra or missing genetic material (usually from chromosome 7 or chromosome 8) in some of their cells. Researchers believe these changes arise from overall genetic instability rather than causing the disorder itself.

Inheritance Pattern

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.

Other Names for This Condition

  • Congenital poikiloderma
  • Poikiloderma atrophicans and cataract
  • Poikiloderma congenitale
  • Poikiloderma congenitale of Rothmund-Thomson
  • RTS

Frequently Asked Questions

The rash in Rothmund‑Thomson syndrome is called poikiloderma. It usually starts as a red patch on the cheeks in the first few months of life and then spreads to the arms, legs, and trunk. Unlike transient eczema or viral exanthems, the rash persists for years, becomes patchy with areas of lighter and darker skin, shows thinning (atrophy) of the skin, and often has visible small blood vessels (telangiectasias). It does not resolve with typical topical treatments and tends to remain stable or slowly progress rather than flare and clear. What early warning signs should I look for that might indicate the development of osteosarcoma in a child with Rothmund‑Thomson syndrome?::Osteosarcoma usually presents with new, persistent bone pain that worsens at night, swelling or a palpable mass over a bone (commonly the femur, tibia, or humerus), and sometimes a rapid increase in size of the pain or swelling. If any of these symptoms appear, prompt imaging (X‑ray, MRI) and referral to an orthopedic oncologist are essential. How can I support bone health and growth in a child with Rothmund‑Thomson syndrome?::Encourage a balanced diet rich in calcium and vitamin D, consider supplementation if levels are low, and promote weight‑bearing or low‑impact exercises (walking, swimming) to stimulate bone density. Regular bone density scans (DEXA) every 1–2 years can help monitor osteopenia, and early intervention with bisphosphonates may be discussed if bone density falls below age‑appropriate norms. What genetic tests are available for Rothmund‑Thomson syndrome, and how is the condition inherited?::Rothmund‑Thomson syndrome is most often caused by biallelic mutations in the MCM5 gene and follows an autosomal recessive inheritance pattern. Genetic testing involves sequencing of the MCM5 gene (and sometimes a panel for related genes). If both parents are carriers, there is a 25 % chance of an affected child with each pregnancy. Prenatal testing (chorionic villus sampling or amniocentesis) and pre‑implantation genetic diagnosis are options for families with known mutations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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