Rothmund-Thomson syndrome type 1

Rothmund-Thomson syndrome type 1 is a condition primarily affecting the skin and eyes, characterized by a distinctive facial rash known as poikiloderma and early onset bilateral juvenile cataracts. It is caused by pathogenic variants in the ANAPC1 gene, which plays a role in cell cycle regulation. Most individuals with this condition are identified in childhood, as symptoms such as cataracts and skin changes prompt medical evaluation. Given its very rare prevalence, it affects far fewer than 1 in 1,000,000 people.

The clinical features of Rothmund-Thomson syndrome type 1 include a characteristic poikiloderma that is always present and juvenile cataracts that develop early in life. Other common findings include short stature, sparse scalp hair, absent eyelashes or eyebrows, and café-au-lait spots seen in a substantial number of cases. In a subset of affected individuals, there may be additional issues such as abnormal skin blistering, hyperkeratosis, and even global developmental delay, which can impact learning and cognitive development. Not all individuals experience all features, and severity varies considerably.

Rothmund-Thomson syndrome type 1 is caused by pathogenic variants in the ANAPC1 gene. Although the precise role of this protein in the syndrome is still being studied, it is understood to be involved in the regulation of the cell cycle. Inheritance of the condition is autosomal recessive, meaning that an affected individual has inherited two copies of the altered gene, one from each parent. This condition is more common when parents share a common ancestor, as both are then more likely to carry the same rare variant.

Currently, management focuses on supportive care and symptom management, as no treatments are specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include ophthalmologists, dermatologists, endocrinologists, and genetic counselors. Regular surveillance and monitoring are important to address evolving issues such as visual impairment from cataracts and complications related to skin or growth abnormalities. Patients should discuss treatment options with their healthcare team to determine which therapies may be appropriate for their specific situation.

The course of Rothmund-Thomson syndrome type 1 is variable; while some features, such as the skin changes and cataracts, are consistently observed, overall outcomes differ among individuals. With current standards of care and regular multidisciplinary monitoring, many individuals maintain a good quality of life into adulthood. , unlike some other forms of Rothmund-Thomson syndrome, this type does not appear to confer an increased risk of cancer. Because severity and symptoms vary widely between individuals, families are encouraged to connect with genetic counselors and specialists for guidance on managing long-term health.

Clinical trials are underway exploring new treatment approaches for Rothmund-Thomson syndrome type 1. Individuals interested in learning more about research opportunities can search ClinicalTrials.gov or consult their care team regarding eligibility for ongoing studies.