Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: Case report

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  De Somer, Lien ^a   Wouters, Carine ^a   Morren, Marie Anne ^a   De Vos, Rita ^a   Van Den Oord, Joost ^a   Devriendt, Koenraad ^a   Meyts, Isabelle ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMOXICILLIN; IMMUNOGLOBULIN; RECQ HELICASE; RECQL4 PROTEIN, HUMAN;

ARTICLE; CAFE AU LAIT SPOT; CANCER RISK; CATARACT; CHICKENPOX; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; EYE EXAMINATION; FEMALE; GENETIC ANALYSIS; GRANULOMATOUS SKIN DISEASE; HERPES ZOSTER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNOHISTOCHEMISTRY; MUSCULOSKELETAL DISEASE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PHYSIOTHERAPY PRACTICE; POIKILODERMA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RARE DISEASE; RESPIRATORY TRACT INFECTION; ROTHMUND THOMSON SYNDROME; SCREENING; SHORT STATURE; SKIN EXAMINATION; CASE REPORT; GENETICS; GRANULOMA; MUTATION; PATHOLOGY; SKIN;

CHICKENPOX; CHILD, PRESCHOOL; FEMALE; GRANULOMA; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; SKIN;

EID: 78649778886     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-37     Document Type: Article

References (24)

1. Ueber Cataracten in Verbindung mit einer eigenthumlichen Hautdegeneration. A Rothmund, Arch Klin Exp Opthal 1868 4 159 182
2. Poikiloderma congenitale. MS Thomson, Br J Dermatol 1936 48 221 234 10.1111/j.1365-2133.1936.tb10332.x
3. Rothmund-Thomson's syndrome. WB Taylor, Arch Dermatol 1957 75 236 244
4. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. LL Wang A Gannavarapu CA Kozinetz ML Levy RA Lewis MM Chintagumpala al. et, J Natl Cancer Inst 2003 95 669 674 10.1093/jnci/95.9.669 12734318
5. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. S Kitao A Shimamoto M Goto RW Miller WA Smithson NM Lindor al. et, Nat Genet 1999 22 82 84 10.1038/8788 10319867
6. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. S Kitao I Ohsugi K Ichikawa M Goto Y Furuichi A Shimamoto, Genomics 1998 54 443 452 10.1006/geno.1998.5595 9878247
7. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. L Van Maldergem HA Siitonen N Jalkh E Chouery M De Roy V Delague al. et, J Med Genet 2006 43 148 152 10.1136/jmg.2005.031781 15964893
8. Rothmund-Thomson syndrome. L Larizza G Roversi L Volpi, Orphanet J Rare Dis 2010 5 2 10.1186/1750-1172-5-2 20113479
9. Granulomatous disease in common variable immunodeficiency. Y Morimoto JM Routes, Curr Allergy Asthma Rep 2005 5 370 375 10.1007/s11882-005-0008-x 16091208
10. Granulomatous disease in common variable immunodeficiency. LJ Mechanic S Dikman C Cunningham-Rundles, Ann Intern Med 1997 127 613 617 9341059
11. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. WH Wheat CD Cool Y Morimoto PR Rai CH Kirkpatrick BA Lindenbaum al. et, J Exp Med 2005 202 479 484 10.1084/jem.20050381 16103407
12. Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii. S Mrusek A Marx J Kummerle-Deschner N Tzaribachev A Enders UN Riede al. et, Clin Exp Immunol 2004 137 578 583 10.1111/j.1365-2249.2004.02558.x 15320909
13. The EUROclass trial: defining subgroups in common variable immunodeficiency. C Wehr T Kivioja C Schmitt B Ferry T Witte E Eren al. et, Blood 2008 111 77 85 10.1182/blood-2007-06-091744 17898316
14. IgG4 deficiency with Rothmund-Thomson syndrome: a case report. M Kubota M Yasunaga H Hashimoto H Kimata H Mikawa A Shinya al. et, Eur J Pediatr 1993 152 406 408 10.1007/BF01955898 8319706 (Pubitemid 23131993)
15. Rothmund-Thomson syndrome with herpes encephalitis. T Ito Y Tokura S Moriwaki K Yasuda A Ohnishi F Furukawa al. et, Eur J Dermatol 1999 9 354 356 10417436
16. Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. MA Broom LL Wang SK Otta AP Knutsen E Siegfried JR Batanian al. et, Clin Genet 2006 69 337 343 10.1111/j.1399-0004.2006.00592.x 16630167
17. Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome. P Reix J Derelle H Levrey-Hadden H Plauchu G Bellon, Pediatr Int 2007 49 118 120 10.1111/j.1442-200X.2007.02292.x 17250521
18. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. NM Lindor Y Furuichi S Kitao A Shimamoto C Arndt S Jalal, Am J Med Genet 2000 90 223 228 10.1002/(SICI)1096-8628(20000131)90:3<223::AID-AJMG7>3.0.CO;2-Z 10678659
19. Foreign body post-varicella granulomas due to talc. C Lazaro C Reichelt J Lazaro MP Grasa FJ Carapeto, J Eur Acad Dermatol Venereol 2006 20 75 78 10.1111/j.1468-3083.2005.01347.x 16405613
20. Cutaneous reactions following herpes zoster infections: report of three cases and a review of the literature. MD Gibney GT Nahass CL Leonardi, Br J Dermatol 1996 134 504 509 10.1111/j.1365-2133.1996.tb16238.x 8731677
21. Cutaneous reactions at sites of herpes zoster scars: an expanded spectrum. L Requena H Kutzner P Escalonilla S Ortiz J Schaller A Rohwedder, Br J Dermatol 1998 138 161 168 10.1046/j.1365-2133.1998.02045.x 9536241 (Pubitemid 28077957)
22. Varicella-zoster virus DNA in granulomatous skin lesions following herpes zoster. A study by the polymerase chain reaction. U Serfling NS Penneys WY Zhu M Sisto C Leonardi, J Cutan Pathol 1993 20 28 33 10.1111/j.1600-0560.1993. tb01245.x 8385680
23. Viral glycoproteins in herpesviridae granulomas. AF Nikkels S Debrus P Delvenne C Sadzot-Delvaux J Piette B Rentier al. et, Am J Dermatopathol 1994 16 588 592 10.1097/00000372-199412000-00003 7864296
24. Isotopic response. R Wolf S Brenner V Ruocco FG Filioli, Int J Dermatol 1995 34 341 348 10.1111/j.1365-4362.1995.tb03616.x 7607796