Rothmund-Thomson Syndrome

The Rothmund-Thomson syndrome describes a genetic skin disease, with a comprehensive poikiloderma on the face and additional orthopedical and ophthalmologic symptoms, as well as a tendency to develop certain cancers.

Other concomitant symptoms include prenatal and postnatal retarded growth, hair loss, juvenile cataract, the complete or partial lacking of eyelashes and eyebrows, skeletal anomalies, radial beam deficits, and premature aging.

In the course of the disease, the affected skin areas develop atrophy, in addition, a network of hypo- and hyperpigmented areas with persistent telangiectasia develops. Numerous anomalies, nail dystrophy and palmo-plantar hyperkeratosis are also included in the ectodermal symptoms.

Rothmund-Thomson syndrome is defined in two different forms, RTS1 and RTS2. RTS1 is characterized by poikiloderma, ectodermal dysplasia and juvenile cataract, RTS2 by poikiloderma, congenital bone defects, childhood osteosarcoma risk, and cutaneous squamous cell carcinoma in adult age.

Some of the patients showed gastrointestinal, respiratory, benign or hematologic manifestations, hypogonadism and osteopenia.

The cause of RTS1 is unknown. RTS2 is due to homozygous or compund heterozygous mutations in the helicase gene RECQL4.