Dermatologic Manifestations of DiGeorge Syndrome Differential Diagnoses

  • Author: Suguru Imaeda, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 25, 2012
 
 

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Suguru Imaeda, MD  Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine

Suguru Imaeda, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Connecticut State Medical Society, Sigma Xi, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mark A Crowe, MD  Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

References
  1. Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol. Feb 2005;11(1):5-19. [Medline].

  2. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. [Medline].

  3. Burn J. Closing time for CATCH22. J Med Genet. Oct 1999;36(10):737-8. [Medline].

  4. Hong R. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). Semin Hematol. Oct 1998;35(4):282-90. [Medline].

  5. Stoller JZ, Epstein JA. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. Apr 1 2005;14(7):885-92. [Medline].

  6. Huh SH, Ornitz DM. Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1. Development. Apr 2010;137(7):1137-47. [Medline]. [Full Text].

  7. Pfuhl T, Durr M, Spurk A, et al. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. Hum Genet. Jun 2005;117(1):70-80. [Medline].

  8. Bittel DC, Yu S, Newkirk H, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009;124(2):113-20. [Medline].

  9. Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM. DiGeorge Syndrome: a not so rare disease. Clinics (Sao Paulo). 2010;65(9):865-9. [Medline]. [Full Text].

  10. Choi JH, Shin YL, Kim GH, et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63(6):294-9. [Medline].

  11. Johnston PC, Donnelly DK, Morrison PJ, Hunter SJ. DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood. Ulster Med J. Sep 2008;77(3):201-2. [Medline].

  12. Jolin EM, Weller RA, Weller EB. Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). Curr Psychiatry Rep. Apr 2009;11(2):99-105. [Medline].

  13. Hacihamdioglu B, Berberoglu M, Siklar Z, Dogu F, Bilir P, Savas Erdeve S, et al. Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties. J Clin Res Pediatr Endocrinol. 2011;3(2):95-7. [Medline]. [Full Text].

  14. Butts SC. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. Mar 2009;73(3):343-50. [Medline].

  15. Cheng AT, Beckenham EJ. Congenital anterior glottic webs with subglottic stenosis: surgery using perichondrial keels. Int J Pediatr Otorhinolaryngol. Jul 2009;73(7):945-9. [Medline].

  16. Minakawa S, Nakano H, Takeda H, et al. Chromosome 22q11.2 deletion syndrome associated with severe eczema. Clin Exp Dermatol. Apr 2009;34(3):410-1. [Medline].

  17. Markert ML, Devlin BH, Chinn IK, McCarthy EA. Thymus transplantation in complete DiGeorge anomaly. Immunol Res. 2009;44(1-3):61-70. [Medline].

  18. Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS. Apr 2007;11(2):179-82. [Medline].

  19. Gilmour DF, Downey LM, Sheridan E, et al. Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?. Ophthalmology. Aug 2009;116(8):1522-4. [Medline].

  20. Binenbaum G, McDonald-McGinn DM, Zackai EH, et al. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A. Apr 1 2008;146(7):904-9. [Medline].

  21. Kokitsu-Nakata NM, Guion-Almeida ML, Richieri-Costa A. 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients. Cleft Palate Craniofac J. Sep 2008;45(5):561-6. [Medline].

  22. da Silva Dalben G, Richieri-Costa A, de Assis Taveira LA. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. Aug 2008;106(2):e46-51. [Medline].

  23. Baylis AL, Watson PJ, Moller KT. Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. Folia Phoniatr Logop. 2009;61(2):93-6. [Medline].

  24. de Almeida JR, James AL, Papsin BC, Weksburg R, Clark H, Blaser S. Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope. Aug 2009;119(8):1495-500. [Medline].

  25. Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med. Jan-Feb 2001;3(1):14-8. [Medline].

  26. Shefi S, Raviv G, Rienstein S, Barkai G, Aviram-Goldring A, Levron J. Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome. J Assist Reprod Genet. Jul 2009;26(7):411-3. [Medline].

  27. McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14(1):69-74. [Medline].

  28. Fernandez L, Lapunzina P, Arjona D, et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet. Oct 2005;68(4):373-8. [Medline].

  29. Cho EH, Park BY, Cho JH, Kang YS. Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization. Korean J Lab Med. Feb 2009;29(1):71-6. [Medline].

  30. Funke BH, Brown AC, Ramoni MF, et al. A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genet Test. Spring 2007;11(1):91-100. [Medline].

  31. Choolani M, Ho SS, Razvi K, et al. FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Mol Hum Reprod. Jun 2007;13(6):355-9. [Medline].

  32. McGhee SA, Lloret MG, Stiehm ER. Immunologic reconstitution in 22q deletion (DiGeorge) syndrome. Immunol Res. 2009;45(1):37-45. [Medline].

  33. Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. May 2005;94(5 Suppl 1):S1-63. [Medline].

  34. [Guideline] Gibson BE, Todd A, Roberts I, et al. Transfusion guidelines for neonates and older children. Br J Haematol. Feb 2004;124(4):433-53. [Medline].

  35. Hong R. Thymus transplants: a look to the future. Birth Defects Orig Artic Ser. 1975;11(1):357-60. [Medline].

  36. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. May 15 2007;109(10):4539-47. [Medline].

  37. Ciupe SM, Devlin BH, Markert ML, Kepler TB. The dynamics of T-cell receptor repertoire diversity following thymus transplantation for DiGeorge anomaly. PLoS Comput Biol. Jun 2009;5(6):e1000396. [Medline].

  38. Markert ML, Devlin BH, Chinn IK, McCarthy EA, Li YJ. Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant. Aug 2008;8(8):1729-36. [Medline].

  39. Rouillon I, Leboulanger N, Roger G, et al. Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion. Arch Otolaryngol Head Neck Surg. Jul 2009;135(7):652-6. [Medline].

  40. Widdershoven JC, Stubenitsky BM, Breugem CC, MinkvanderMolen AB. Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg. Nov 2008;134(11):1159-64. [Medline].

  41. Nugent N, McGillivary A, Earley MJ. 22q11 chromosome abnormalities and the cleft service. J Plast Reconstr Aesthet Surg. Feb 25 2009;[Medline].

  42. Waters V, Peterson KS, LaRussa P. Live viral vaccines in a DiGeorge syndrome patient. Arch Dis Child. Jun 2007;92(6):519-20. [Medline].

  43. Bearden CE, Jawad AF, Lynch DR, et al. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychol. Feb 2005;11(1):109-17. [Medline].

  44. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. Jun 1979;94(6):883-90. [Medline].

  45. DeBerardinis RJ, Medne L, Spinner NB, Zackai EH. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet A. Oct 1 2005;138A(2):155-9. [Medline].

  46. Driscoll DA. Genetic basis of DiGeorge and velocardiofacial syndromes. Curr Opin Pediatr. Dec 1994;6(6):702-6. [Medline].

  47. Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. The 22q11.2 deletion syndrome. Adv Pediatr. 2001;48:39-73. [Medline].

  48. Freedberg IM, Eisen AZ, Wolff K. Fitzpatrick's Dermatology in General Medicine. 5th ed. New York: McGraw-Hill; 1999:1402.

  49. Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH. Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet Med. Jan-Feb 2001;3(1):40-4. [Medline].

  50. Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr. Jul 1987;111(1):40-4. [Medline].

  51. Harris V. 22q11 deletion syndrome and forensic research: can we go there?. J Am Acad Psychiatry Law. 2005;33(1):106-11. [Medline].

  52. Hong R. The DiGeorge anomaly. Clin Rev Allergy Immunol. Feb 2001;20(1):43-60. [Medline].

  53. Huang RY, Shapiro NL. Structural airway anomalies in patients with DiGeorge syndrome: a current review. Am J Otolaryngol. Sep-Oct 2000;21(5):326-30. [Medline].

  54. Hurwitz S. Clinical Pediatric Dermatology. 2nd. Philadelphia, Pa: WB Saunders; 1993:592-3.

  55. Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr. Aug 1995;127(2):231-7. [Medline].

  56. Kornfeld SJ, Zeffren B, Christodoulou CS, Day NK, Cawkwell G, Good RA. DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunol. May 2000;105(5):983-7. [Medline].

  57. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet. Nov 11 1996;65(4):309-16. [Medline].

  58. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. Jan-Feb 2001;3(1):45-8. [Medline].

  59. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11. Genet Couns. 1999;10(1):25-33. [Medline].

  60. Markert ML, Hummell DS, Rosenblatt HM, et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr. Jan 1998;132(1):15-21. [Medline].

  61. McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test. 1997;1(2):99-108. [Medline].

  62. McLean-Tooke A, Spickett GP, Gennery AR. Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scand J Immunol. Jul 2007;66(1):1-7. [Medline].

  63. Oskarsdottir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. Mar 2005;164(3):146-53. [Medline].

  64. Rice HE, Skinner MA, Mahaffey SM, et al. Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations. J Pediatr Surg. Nov 2004;39(11):1607-15. [Medline].

  65. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. Oct 2000;9(16):2421-6. [Medline].

  66. Schuffenhauer S, Seidel H, Oechsler H, et al. DiGeorge syndrome and partial monosomy 10p: case report and review. Ann Genet. 1995;38(3):162-7. [Medline].

  67. Scuccimarri R, Rodd C. Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. J Pediatr Endocrinol Metab. Mar-Apr 1998;11(2):273-6. [Medline].

  68. Sobin C, Kiley-Brabeck K, Karayiorgou M. Lower prepulse inhibition in children with the 22q11 deletion syndrome. Am J Psychiatry. Jun 2005;162(6):1090-9. [Medline].

  69. Stevens CA, Carey JC, Shigeoka AO. Di George anomaly and velocardiofacial syndrome. Pediatrics. Apr 1990;85(4):526-30. [Medline].

  70. Stiers P, Swillen A, De Smedt B, et al. Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome. Child Neuropsychol. Feb 2005;11(1):87-108. [Medline].

  71. Thomas JA, Graham JM Jr. Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). May 1997;36(5):253-66. [Medline].

  72. Turnpenny PD, Pigott RW. Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym. J Med Genet. Apr 2001;38(4):271-3. [Medline].

  73. Vantrappen G, Devriendt K, Swillen A, et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns. 1999;10(1):3-9. [Medline].

  74. Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med. Jan-Feb 2001;3(1):19-22. [Medline].

  75. Zinkstok J, van Amelsvoort T. Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review. Child Neuropsychol. Feb 2005;11(1):21-37. [Medline].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.