Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and skeletal defects. We report a patient with the characteristic features of Rothmund-Thomson syndrome who also had lymphocyte chromosome abnormalities. She has a small flat face with short palpebral fissures and micrognathia together with severe ...

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...

Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...

neutropenia is characterized by decrease in the absolute number of circulating neutrophils and an increase susceptibility to infections. the current study was performed in order to explain the clinical and laboratory findings of patients with antibody deficiency disorders associated neutropenia. the patients' records of 19 neutropenic cases out of 207 patients with antibody deficiencies, who ha...

Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis...

The recessive disorder poikiloderma with neutropenia (PN) is caused by mutations in the C16orf57 gene that encodes the highly conserved USB1 protein. Here, we present the 1.1 Å resolution crystal structure of human USB1, defining it as a member of the LigT-like superfamily of 2H phosphoesterases. We show that human USB1 is a distributive 3'-5' exoribonuclease that posttranscriptionally removes ...

We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon"...

Recent studies from independent laboratories have decisively disclosed the identity of the long-sought 3-5' RNA exonuclease that trims posttranscriptionally the oligouridine tail of U6, which is the small catalytic non-coding RNA promoting premRNA splicing within the spliceosome. This exonuclease, dubbed Mpn1 or Usb1, is a highly conserved enzyme that specifically removes uridines from the 3' e...

INTRODUCTION Felty's syndrome is an uncommon but severe extra-articular manifestation of rheumatoid arthritis. Felty's syndrome is characterized by the triad of rheumatoid arthritis, neutropenia, and splenomegaly. The lifetime risk of Felty's syndrome for a rheumatoid arthritis patient is less than 1% and there are only few case reports of Felty's syndrome with neutropenia preceded clinical evi...