Rothmund-Thomson syndrome type 2

Rothmund-Thomson syndrome type 2 is a rare genetic condition that is a subtype of Rothmund-Thomson syndrome. People with this condition may develop a distinctive facial rash known as poikiloderma. The syndrome often presents in childhood and can be identified by its characteristic skin changes. In addition to the rash, many individuals with this condition may experience short stature, sparse scalp hair, and sparse or absent eyelashes and eyebrows. Other features often include congenital bone defects and an increased risk for certain types of cancers, such as osteosarcoma during childhood and squamous cell carcinoma later in life.

Common signs of Rothmund-Thomson syndrome type 2 include a characteristic facial rash called poikiloderma, short stature, and sparse scalp hair. People may also have sparse or absent eyelashes and eyebrows, and congenital bone defects are frequently reported. There is also an increased risk of developing osteosarcoma (a type of bone cancer) in childhood and squamous cell carcinoma (a form of skin cancer) later in life.

Rothmund-Thomson syndrome type 2 is linked to changes in the RECQL4 gene. These genetic changes affect the normal function of the gene, which plays a role in DNA repair and cell division. This genetic cause is why the condition is considered inherited.

Information about treatment is currently limited for this condition.

Due to the increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life, the outlook for people with Rothmund-Thomson syndrome type 2 can be complex. Regular follow-up with healthcare providers is important, although long-term outcomes can vary. Overall, information about long-term prognosis is currently limited.

Information about current research and future directions is currently limited for this condition.