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Primary Immunodeficiency, Skin, Child
Abstract. Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations. Dermatological involvements were grouped according to the etiology of their most prominent sign. Cutaneous manifestations were found in 164 patients (56.5%). They revealed the diagnosis of PIDs in 71 patients (24.5 %). The mean age at presentation was 21 months. Overall the most prominent cutaneous alterations were infectious. They accounted for 106 cases (36.55%). The most prevalent causes of cutaneous infections were bacterial: 93 cases (32.06%). Immuno-allergic skin diseases were among the common findings in our study. These include eczematous dermatitis found in 62 cases (21.38%). Malignancy related PIDs was seen in a boy with Wiskott Aldrich syndrome. He developed Kaposi’s sarcoma at the age of 14 months. Cutaneous changes are common among children with PIDs. In pediatric patients with failure to thrive, chronic refractory systemic manifestations often present in other family members, recurrent cutaneous infections unresponsive to adequate therapy, atypical forms of eczematous dermatitis or unusual features should arouse the suspicion of PIDs and prompt specialized immunologic consultation should be made.
2. Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol 2014; 46:112 119.http://dx.doi.org/10.1007/s12016-013-8377-8.
3. Smitt JHS, Wulffraat NM, Kuijpers TW. The skin in primary immunodeficiency disorders. Eur J Dermatol 2005 ;15: 425-432.
4. Moin A , Farhoudi A, Moin M, Pourpak Z, Bazargan N . Cutaneous Manifestations of Primary Immunodeficiency Diseases in Children. Iran J Allergy Asthma Immunol 2006; 5:121-126.http://dx.doi.org/ 05.03/ijaai.121126 PMID:17237563
5. Al Herz W, Nanda A. Skin manifestations in primary immunodeficient children. Pediatr Dermatol 2011; 28:494 501.http://dx.doi.org/ 10.1111/j.1525-1470.2011.01409.x. Suleman Elfaituri S, Matoug I. Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children. J Clin Dermatol Ther 2017;4: 025. http://dx.doi.org/10.24966/CDT-8771/100025
6. Yu JE , Azar AE , Chong HJ , Jongco AM 3rd , Prince BT . Considerations in the Diagnosis of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc 2018; 7(suppl 1):S6-S11. http://dx.doi.org/10.1093/jpids/piy007. PMID: 29746674
7. Johnston S L. Clinical Immunology Review Series: An approach to the patient with recurrent superficial abscesses. Clin Exp Immunol 2008 ; 152(3): 397–405. http://dx.doi.org/10.1111/j.1365-2249.2008.03640.x .
8. Movahedi Z, Norouzi S, Mamishi S, Rezaei N. BCGiosis as a presenting feature of a child with chronic granulomatous disease. Braz J Infect Dis 2011;15: 83-86.
9. Galal N , Boutros J, Marsafy A, Kong XF, Feinberg J, Casanova JL, Boisson-Dupuis S, Bustamante J. Mendelian susceptibility to mycobacterial disease in egyptian children.Mediterr J Hematol Infect Dis 2012 . http://dx.doi.org/10.4084/MJHID.2012.033.
10. Norouzi S, Aghamohammadi A, Mamishi S, et al. Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases. J Infect 2012;64:543–54.http://dx.doi.org/ 10.1016/j.jinf.2012.03.012.
11. De Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S ,et al. Revisiting human IL-12R?1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010; 89: 381-402. http://dx.doi.org/ 10.1097/MD.0b013e3181fdd832. PMID:21057261
12. Guirat-Dhouib N , Baccar Y, Mustapha IB, Ouederni M, Chouaibi S, El Fekih N, Barbouche MR, Fezaa B, Kouki R, Hmida S, Mellouli F, Bejaoui M. Oral HPV infection and MHC class II deficiency (A study of two cases with atypical outcome). Clin Mol Allergy. 2012 Apr 23;10(1):6.http://dx.doi.org/10.1186/1476-7961-10-6.
13. Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD. Dermatological manifestations of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome. Br J Dermatol 2006;154:1088 1093 .http://dx.doi.org /10.1111/j.1365-2133.2006.07166.x. PMID:16704638
14. Berron-Ruiz A , Berron-Perez R, Ruiz-Maldonado R. Cutaneous markers of primary immunodeficiency diseases in children. Pediatr Dermatol. 2000 Mar-;17(2):91-6
15. Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004;103:456-464.http://dx.doi.org/ 10.1182/blood-2003-05-1480. Catucci M, Castiello MC, Pala F, Bosticardo M, Villa A. Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. Front Immunol. 2012 ;3:209. http://dx.doi.org/10.3389/fimmu.2012.00209.
16. Ouederni M, Vincent QB, Frange P, et al: Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood 2011;118(19):5108-5118.http://dx.doi.org/10.1182/blood-2011-05-352716. Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, et al. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency. JRareDis 2011 ;6:76. http://dx.doi.org/10.1186/1750-1172-6-76.
17. Aghamohammadi A, Moghaddam ZG, Abolhassani H, Hallaji Z, Mortazavi H, Pourhamdi S, et al. Investigation of underlying primary immunodeficiencies in patients with severe atopic dermatitis. Allergol Immunopathol (Madr) 2014; 42(4):336-341. http://dx.doi.org/10.1016/j.aller.2013.02.004.
18. Chiam LY , Verhagen MM, Haraldsson A, Wulffraat N, Driessen GJ, Netea MG, Weemaes CM, Seyger MM, van Deuren M. Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: Reflection of inappropriate immune regulation? Dermatology 2011;223(1):13-19. http://dx.doi.org/10.1159/000330335.
19. Carranza D, Vega AK, Torres Rusillo S, Montero E, Martinez LJ, Santamaría M, et al. Molecular and functional characterization of a cohort of Spanish patients with ataxia telangiectasia. Neuromolecular Med 2017; 19(1):161-174. http://dx.doi.org/10.1007/s12017-016-8440.
20. Greenberger S , Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol 2013 ;68(6):932-6. http://dx.doi.org/10.1016/j.jaad.2012.12.950.
21. Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R . Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis 2013; 17(8):168. http://dx.doi.org/10.1186/1750-1172-8-168.
22. Notarangelo LD .PIDs and cancer: an evolving story. Blood 2010;116(8):1189-1190. http://dx.doi.org/10.1182/blood-2010-06-286179.
23. Mortaz E, Tabarsi P, Mansouri D, Khosravi A, Garssen J, Velayati A, Adcock IM. Cancers Related to Immunodeficiencies: Update and Perspectives. Front Immunol 2016; 7:365. eCollection 2016. http://dx.doi.org/ 10.3389/fimmu.2016.00365.
24. Mayor PC , Eng KH , Singel KL , Abrams SI , Odunsi K , Moysich KB , Fuleihan R, Garabedian E , Lugar P , Ochs HD , Bonilla FA , Buckley RH , Sullivan KE, Ballas ZK , Cunningham-Rundles C , Segal BH . Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol. 2018; 141(3):1028-1035. http://dx.doi.org/10.1016/j.jaci.2017.05.024.
25. Picard C , Mellouli F, Duprez R, Chédeville G, Neven B, Fraitag S, Delaunay J, Le Deist F, Fischer A, Blanche S, Bodemer C, Gessain A, Casanova JL, Bejaoui M. Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome. Eur J Pediatr. 2006 ;165(7):453-457. . http://dx.doi.org/10.1007/s00431-006-0107-2.