WebWerner syndrome is premature aging after puberty with hair thinning and development of conditions of old age (eg, cataracts, diabetes, osteoporosis, atherosclerosis). Rothmund-Thomson syndrome is premature aging with increased susceptibility to cancer. WebThe disorders (BS, WS and Rothmund–Thomson syndrome) that result from defects in the genes encoding the RecQ helicase proteins generally cause premature aging and a predisposition to cancer. BS is a progressive autosomal recessive disorder characterized by small stature, sun sensitivity, immunodeficiency, chromosome instability, and a striking …
What Is Rothmund-Thomson Syndrome? - icliniq.com
WebFeb 8, 2014 · ZinsserCole-Engman syndrome, also known as dyskeratosis congenita, is a rare genetic disorder characterized by triad of pigmentation and atrophy of the skin, leukokeratoses of oral mucosa and nail dystrophy along with bone marrow failure and predisposition to cancer [1]. WebApr 12, 2024 · Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in ANAPC1 and juvenile cataracts, and type II, with biallelic variants in RECQL4 , increased cancer risk and no cataracts. We report on six Brazilian … draw tite 75600
KEGG DISEASE: Rothmund-Thomson syndrome
WebRothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse ... RTS type 2, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility. RECQL4 is shown to be important protein for DNA replication, repair, and telomere maintenance ... WebRECQL4 - Rothmund-Thomson Syndrome and increased risk of Skin Cancer. There is thought to be an increased risk of skin cancers (basal cell carcinoma and squamous cell carcinoma) with RTS ( Borg, 1998) though this is not well characterised. There have been cases of skin cancer developing at an early age in RTS. WebMembers of the medical team for Rothmund-Thomson syndrome may include: ... Cancer doctors (oncologists) are trained to diagnose, treat, and manage cancers and conditions … draw tite 75607