This rare autosomal recessive disorder is characterized by atrophy, pigmentation, and telangiectasia of the skin associated with juvenile zonular cataracts and short stature. The dermal erythematous lesions may be present
at birth and have usually appeared by the first 6 months of life. They begin on the face and spread to involve the whole of the body. The skin atrophy, pigmentation, and telangiectasia develop from the 3rd to the 6th month of
life, particularly on extensor surfaces of the hands, arms, legs, and buttocks, and are worst over exposed surfaces. This inflammatory stage is followed by skin atrophy with pigmentation anomalies. Bilateral cataracts develop at 4–7 years, and there may be alopecia. Warty dyskeratosis is seen, and squamous cell carcinoma may develop in the skin in adulthood; multiple Bowen disease has been described (Haneke and Gutschmidt 1979; Kitao et al. 1999). There are two case reports of oral squamous cell carcinoma (Dahele et al. 2004).
Associated abnormalities that may occur include sparse hair or alopecia, atrophic nails, microdontia or other dental malformations, hypogonadism, small saddle nose, hypoplastic thumbs, forearm reduction defects, small hands and feet, and osteoporosis or sclerosis.
Osteogenic sarcoma has been described in a proportion of patients (32 % in one series, mean age 11.5 years), and skin malignancy may also occur (Starr et al. 1985; Wang et al. 2001). Myelodysplasia and fibrosarcoma have also been described in this condition (Naryan et al. 2001). A subset of cases are due to biallelic mutations in the RECQL4 helicase, and those with truncating mutations may be at higher risk of osteosarcoma (Wang et al. 2003a). In a 25-year retrospective study of 938 individuals with osteosarcoma, 66 had multiple primary cancers. One of these cases had Rothmund–Thompson syndrome, illustrating the rarity of this condition in patients ascertained by a diagnosis of osteosarcoma (Hauben et al. 2003).
Patients with Rothmund–Thompson syndrome have an increased risk of second malignant Tumours – almost 20 % of Rothmund–Thompson syndrome patients being for a primary Tumours (osteosarcoma, soft tissue sarcoma, or hematological neoplasia) developed a second malignancy (Stinco et al. 2008).