Abstract
Results All patients had characteristic poikiloderma as well as thumb anomalies. They were born dysmaturely and presented with failure to thrive. Age at genetic diagnosis was 5y, 4y and 3y for P1, P2, P3. Osteopenia and abnormal metaphyseal trabeculation of bones were striking on the initial skeletal survey in all patients. Z-scores on DXA scan were -0.1, -1.1 and -1.2 for P1, P2, P3 respectively at presentation. The presentation in P2 was dramatic with 6 fractures in upper and lower extremities and subluxation of both radii. All patients were suffering from recurrent chest infections. P1 had granulomatous skin inflammation following primo VZV infection. All patients have low switched memory B cells for age, P1 has IgG2 deficiency. P1 and P3 have IgM deficiency. P1 and P3 have specific polysaccharide antibody deficiency. Results are pending for P2. All receive prophylactic antibiotics. P1 is treated with subcutaneous immunoglobulin substitution.
Highlights
Rothmund-Thomson (RTS) syndrome is a rare autosomal recessively inherited genodermatosis
Immunological investigation, x-ray imaging and bone densitometry were performed at time of the first visit to the combined rheumatology-immunology clinic
RTS is a genodermatosis with variable clinical presentation and course
Summary
Rothmund-Thomson (RTS) syndrome is a rare autosomal recessively inherited genodermatosis. I Meyts1*, L De Somer1, X Bossuyt2, M-A Morren3, K Devriendt4, C Wouters1 From 18th Pediatric Rheumatology European Society (PReS) Congress Bruges, Belgium. Background Rothmund-Thomson (RTS) syndrome is a rare autosomal recessively inherited genodermatosis.. It is characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract, and an increased risk of cancer. The syndrome is caused by mutations in RECQL4 at 8q24.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
