The cutaneous manifestations of atypical complete DiGeorge syndrome: A histopathologic and immunohistochemical study

Journal of Cutaneous Pathology

Volumn 35, Issue 4, 2008, Pages 380-385

  Selim, Maria Angelica ^a   Markert, Mary L ^a   Burchette, James L ^a   Herman, Christopher M ^a   Turner, John W ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DERMATITIS; DIGEORGE SYNDROME; EOSINOPHIL; EXOCYTOSIS; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INFLAMMATION; LYMPHADENOPATHY; PARAKERATOSIS; PATHOPHYSIOLOGY; PHENOTYPE; SATELLITE CELL; SKIN BIOPSY; SKIN MANIFESTATION; T LYMPHOCYTE;

BIOLOGICAL MARKERS; DERMATITIS; DIGEORGE SYNDROME; EOSINOPHILS; EXOCYTOSIS; HUMANS; IMMUNOHISTOCHEMISTRY; KERATINOCYTES; PARAKERATOSIS; THYMUS GLAND;

EID: 40549137110     PISSN: 03036987     EISSN: 16000560     Source Type: Journal    
DOI: 10.1111/j.1600-0560.2007.00816.x     Document Type: Article

References (24)

1. Thomas RA, Landing BH, Wells TR. Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge syndrome (DGA). Am J Med Genet 1987 Suppl. 3 : 43.
2. Carey AH, Kelly D, Halford S, et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992 51 : 964.
3. Daw SC, Taylor C, Kraman M, et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996 13 : 458.
4. Bastian J, Law S, Vogler L, et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr 1989 115 : 391.
5. Markert ML, Hummell DS, Rosenblatt HM, et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 1998 132 : 15.
6. Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cell in 5 cases. J Allergy Clin Immunol 2004 113 : 734.
7. Archer E, Chuang TY, Hong R. Severe eczema in a patient with DiGeorge's syndrome. Cutis 1990 45 : 455.
8. DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects 1968 4 : 116.
9. Conley ME, Beckwith JB, Mancer JF, et al. The spectrum of the DiGeorge syndrome. J Pediatr 1979 94 : 883.
10. Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 1999 341 : 1180.
11. Ocejo-Vinyals JG, Lozano MJ, Sanchez-Velasco P, et al. An unusual concurrence of graft versus host disease caused by engraftment of maternal lymphocytes with DiGeorge anomaly. Arch Dis Child 2000 83 : 165.
12. Loechelt BJ, Shapiro RS, Jyonouchi H, Filipovich AH. Mismatched bone marrow transplantation for Omenn syndrome: a variant of severe combined immunodeficiency. Bone Marrow Transplant 1995 16 : 381.
13. Markert ML, Alexieff MJ, Li J, et al. Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge Syndrome. Blood 2004 8 : 2574.
14. Hong R. DiGeorge anomaly. Immunodef Rev 1991 3 : 1.
15. Wang R, Martinez-Frias ML, Graham JM Jr. Infants of diabetic mothers is at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. J Pediatr 2002 141 : 611.
16. Gosseye S, Golaire MC, Verellen G, et al. Association of bilateral renal agenesis and DiGeorge syndrome in an infant of a diabetic mother. Helv Paediatr Acta 1982 37 : 471.
17. Blake KD, Bavenport SLH, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr 1998 37 : 159.
18. de Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet 1997 34 : 986.
19. Lin AE, Chin AJ, Devine W, et al. The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child 1987 141 : 1010.
20. Markert ML, Sarzotti M, Ozaki DA, et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood 2003 102 : 1121.
21. Rongioletti F, Smoller B. The histologic value of adnexal (eccrine gland and follicle) infiltration in mycosis fungoides. J Cutan Pathol 2000 27 : 406.
22. Hitchcock MG, Burchette JL, Olsen EA, Ratech H, Kamino H. Eccrine gland infiltration by mycosis fungoides. Am J Dermatopathol 1996 18 : 447.
23. Gilliam AC, Lessin SR, Wilson DM, Salhany KE. Folliculotropic mycosis fungoides with large-cell transformation presenting as dissecting cellulitis of the scalp. J Cutan Pathol 1997 24 : 169.
24. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997 34 : 798.