Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by early onset of poikiloderma and several other cutaneous and organ involvements. We are going to report a 14-year-old girl who has been diagnosed with Rothmund– Thomson syndrome since she was 3 years old and has been suffering from pain and swelling of the right elbow and forearm for about 6 months. There are...

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the asso...

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions compl...

This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.

Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients with Rothmund Thomson syndrome who were investigated for the in vitro DNA repair capacities of blood...

BACKGROUND Rothmund-Thomson syndrome is a rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. CASE DESCRIPTION A 51-year-old male patient, diagnosed with Rothmund-Thomson syndrome, attended to our outpatient clinic with complaint of unhealing wound in lower part of his left leg. Over this period, he had received vari...

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to cancer. The prevalence is unknown but around 300 cases have been reported in the litera...