What is Rothmund-Thomson syndrome?

Rothmund-Thomson syndrome is a very rare hereditary syndrome in which the stability of the chromosomes that carry the genetic material is disrupted. This results in a predisposition to cancer that exhibits as an increased incidence of bone tumors (osteosarcomas). One characteristic sign is skin redness that appears during infancy, becomes chronic, and, over the course of years, develops into pigment disorders, atrophy, and increased vascular markings (poikiloderma).

How is Rothmund-Thomson syndrome diagnosed?

The clinical diagnosis can be made by a syndromes specialist on the basis of characteristic changes. Molecular genetic evidence is provided by a genetic analysis.

Clinical Presentation

Acute Phase

Normal skin at birth. Onset of skin redness at the age of 3-6 months, which spreads from top (face) to bottom (buttocks and extremities), typically leaving out the trunk, and is accompanied by the formation of blisters.

Chronic Phase

Over the course of months or years, pigment changes (color changes in the skin with light spots (= hypopigmentation) or dark spots (= hyperpigmentation), atrophies (thin skin), hypertrophies (thickened skin), and increased vascular markings (telangiectasia) develop, all combined under the term poikiloderma, and persist all throughout life.

  • Skin changes (poikiloderma)

  • Sparse hair, eyebrows, and eyelashes

  • Calluses, especially on the soles of the feet

  • Changes in the nails

  • Dwarfism (short stature)

  • Gastrointestinal problems (eating disorders, chronic vomiting/diarrhea)

  • Bone defects

  • Reduced bony substance (osteoporosis)

  • Dental anomalies

  • Eye problems

  • Bone marrow failure

What is the risk of cancer?

Bone tumors (osteosarcomas) and skin tumors are the most frequent tumors detected. With proven RTS, the incidence is indicated as being 30% for bone tumors and 5% for skin tumors.

What causes Rothmund-Thomson syndrome?

Normally, the DNA – which carries our genetic material – is stabilized by a specific enzyme. The gene alteration associated with Rothmund-Thomson syndrome, results either in this enzyme no longer being produced altogether or not being produced in sufficient quantities. This leads to the accumulation of an increased number of errors in the genetic material.

Is there a treatment?

Treatment mainly involves diagnosing any complications as early as possible and then following the corresponding treatment recommendation.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

It is advisable to have an initial X-ray examination to document bone defects before the age of 5. Annual skin and eye examinations are helpful, along with six-monthly dental checkups. In addition, please consult the attending doctor whenever new symptoms occur.

Self-Care and Support

What should I pay special attention to?

  • Consistent sun protection measures (UV-A and UV-B protection)

  • Avoid any excessive exposure to sunlight

  • Avoid exposure to ionizing radiation

  • Calcium and vitamin D supplements if there is a reduction in bone density or a bone fracture in the medical history

  • Possibly pulsed laser therapy for telangiectasia

  • Possibly vitamin A derivatives to address the development of calluses

Support Groups and Additional Information