Rothmund-Thomson syndrome, also known as poikiloderma congenitale, is a rare genetic disorder characterized by a variety of dermatological and systemic features. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.
The hallmark sign of Rothmund-Thomson syndrome is the presence of poikiloderma, which refers to a distinctive pattern of skin abnormalities. These characteristics include areas of hyperpigmentation (darkening of the skin), hypopigmentation (lightening of the skin), and telangiectasia (dilated blood vessels). Additionally, affected individuals may also develop patches of atrophic, shiny skin that is prone to blistering and scarring.
In addition to the dermatological manifestations, Rothmund-Thomson syndrome is associated with several other health issues. These can include skeletal abnormalities such as short stature, dental abnormalities including small, malformed or missing teeth, and cataracts (clouding of the lens of the eye). Some individuals may also experience hair loss, progressive bone marrow failure, or an increased risk of developing certain types of cancers, most notably osteosarcoma.
While there is currently no cure for Rothmund-Thomson syndrome, treatment focuses on managing the symptoms and preventing complications. This may involve regular surveillance for the development of cancers, proactive dental care to address tooth abnormalities, and addressing any other specific health concerns on an individual basis.
