title: Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
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.
authors.affiliation: Department of Pediatric, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Lien
authors.initials: L
authors.lastname: De Somer
authors.forename: Carine
authors.initials: C
authors.lastname: Wouters
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Morren
authors.forename: Rita
authors.initials: R
authors.lastname: De Vos
authors.forename: Joost
authors.initials: J
authors.lastname: Van Den Oord
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
authors.forename: Isabelle
authors.initials: I
authors.lastname: Meyts
mesh_terms: D002644:Chickenpox / Q000150:complications* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006099:Granuloma / Q000150:complications* / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D009154:Mutation; D053484:RecQ Helicases / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000235:genetics; D012867:Skin / Q000473:pathology*
chemical_list: C506731:RECQL4 protein, human; D053484:RecQ Helicases