Title: Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report
Authors: De Somer, Lien ×
Wouters, Carine
Morren, Marie
De Vos, Rita
van den Oord, Joost
Devriendt, Koenraad
Meyts, Isabelle #
Issue Date: Dec-2010
Publisher: BioMed Central
Series Title: Orphanet Journal of Rare Diseases vol:5 issue:37
Article number: 37
Abstract: ABSTRACT: 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 complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome.
ISSN: 1750-1172
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory of Experimental Transplantation
Laboratory of Pediatric Immunology
Laboratory of Dermatology
Translational Cell & Tissue Research
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
De Somer.pdfpublisher's version pdf Published 318KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science