Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Öner Özdemir

doi:10.31832/smj.1025702

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Abstract

Primer immün yetmezlik hastalık tipleri günümüzde bilindiği gibi 400 hastalığı geçmiş bulunmaktadır. Farkındalığın artması ve tanı yöntemlerinin gelişmesi ile nadir olarak görülmekten çıkmışlar ve sık görülen hastalıklar haline gelmeye başlamışlardır. Bu hastalıklara cilt bulguları açısından yaklaşmak ve tanımak bu derlemenin asıl amacıdır. Primer immün yetmezlik hastalıklarının 10 uyarıcı işaretlerinden ikisi cilt bulgularından olmakla beraber sadece (bakteriyel ya da fungal) enfeksiyöz cilt bulgularını düşündürtmektedir. Bunlardan ilki tekrarlayan derin cilt abseleri ve diğeri cilt üzerindeki persistan mantar enfeksiyonu (tinea / dermatofitoz) olmasıdır. Cilt bulgularının sık olarak primer immün yetmezlik hastalıklarında görüldüğü bilinmelidir. En sık enfeksiyonlara (bakteriyel) ait bulgular görünmesine rağmen, onu non-enfeksiyöz tipte immüno-alerjik bulgu olarak egzama (atopik dermatit) izler. İmmüno-alerjik olmayan bulgular ise epidermal displazi, telenjiektazi vb. belirtilerdir. Bu deri belirtileri, bazen ilk geliş bulgusu olabilir. Her zaman bu bulgular çok özgün olmayabilir. Bu cilt bulgularıyla beraber özellikle büyüme geriliği ya da çoklu sistem tutulumu varsa, yine bu cilt bulgusu rekurrent ve tedaviye dirençli (refrakter) ise mutlaka primer immün yetmezlik hastalığı düşünülmeli ve var olup olmadığı araştırılmalıdır.

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References

Kaynaklar 1- Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol. 2020;40(1):66-81. doi: 10.1007/s10875-020-00758-x.
2. Bucciol G, Meyts I. Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. F1000Res. 2020; 9:F1000 Faculty Rev-194. doi: 10.12688/ f1000research.21553.1.
3. Demirdag Y, Fuleihan R, Orange JS, Yu JE. New primary immunodeficiencies 2021 context and future. Curr Opin Pediatr. 2021;33(6):657-675. doi: 10.1097/MOP.0000000000001075 .
4. http://www.info4pi.org/library/educational-materials/10-warning-signs
5. Tanır Başaranoğlu S, Kaplan S, Aykaç K, Özsürekçi Y, Cengiz AB, Kara A, Ceyhan M. Clinical evaluation of 423 pediatric patients with skin rashes. Çocuk Sağlığı ve Hastalıkları Dergisi 2017; 60: 46-51.
6. López-Quintero W, Cleves D, Gomez-Vasco JD, Pérez P, Patiño J, Medina-Valencia D, Pachajoa H, Torres-Canchala L, Vidal A, Olaya M. Skin manifestations in pediatric patients with primary immunodeficiency diseases (PIDs) in a tertiary care hospital in Colombia. World Allergy Organ J. 2021;14(3):100527.
7. 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(3):121-6.
8. Elfaituri SS, Matoug I. Cutaneous Manifestations of Primary Immunodeficiency Diseases in Libyan Children. J Clin Dermatol Ther 2017; 4: 025.

9. Al-Herz W, Nanda A. Skin manifestations in primary immunodeficient children. Pediatr Dermatol. 2011; 28(5):494-501. doi: 10.1111/j.1525-1470.2011.01409.x.
10. Dhouib NG, Ben Khaled M, Ouederni M, Ben-Mustapha I, Kouki R, Besbes H, Barbouche MR, Mellouli F, Bejaoui M. Cutaneous manifestations of primary ımmunodeficiency Diseases in Tunisian children. Mediterr J Hematol Infect Dis. 2018; 10(1):e2018065.
11. Berron-Ruiz A, Berron-Perez R, Ruiz-Maldonado R. Cutaneous markers of primary immunodeficiency diseases in children. Pediatr Dermatol. 2000;17(2):91-6. doi: 10.1046/ j.1525-1470.2000.01721.x.
12. Relan M, Lehman HK. Common dermatologic manifestations of primary immune deficiencies. Curr Allergy Asthma Rep. 2014 Dec;14(12):480. doi: 10.1007/s11882-014-0480-2.
13. Tallar M, Routes J. Omenn Syndrome Identified by Newborn Screening. Clin Perinatol. 2020; 47(1): 77-86. doi: 10.1016/j.clp.2019.09.004.
14. Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014; 46(2):112-9. doi: 10.1007/s12016-013-8377-8.
15. Harp J, Coggshall K, Ruben BS, Ramírez-Valle F, He SY, Berger TG. Cutaneous granulomas in the setting of primary immunodeficiency: a report of four cases and review of the literature. Int J Dermatol. 2015; 54(6):617-25. doi: 10.1111/ijd.12765.
16. Law-Ping-Man S, Toutain F, Rieux-Laucat F, Picard C, Kammerer-Jacquet S, Magérus-Chatinet A, Dupuy A, Adamski H. Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. Pediatr Dermatol. 2018; 35(6):e375-e377. doi: 10.1111/pde.13676.
17. Yang J, Liu Y. Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report. BMC Neurol 2021; 21: 288. https:// doi.org/ 10.1186/s12883-021-02324-3.
18. Kishore M, Panat SR, Aggarwal A, Agarwal N, Upadhyay N, Ajai K, Alok A. Hypohidrotic ectodermal dysplasia (ED): A Case Series. J Clin Diagn Res. 2014; 8(1):273-5. doi: 10.7860/ JCDR/ 2014/6597.3951.
19. Yang L, Fliegauf M, Grimbacher B. Hyper-IgE syndromes: reviewing PGM3 deficiency. Curr Opin Pediatr. 2014; 26(6):697-703. doi: 10.1097/ MOP.0000000000000158
20. Bergerson JRE, Freeman AF. An Update on Syndromes with a Hyper-IgE Phenotype. Immunol Allergy Clin North Am. 2019; 39(1):49-61. doi: 10.1016/j.iac.2018.08.007.
21. Eberting CL, Davis J, Puck JM, Holland SM, Turner ML. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol. 2004; 140(9):1119-25. doi: 10.1001/archderm.140.9.1119.
22. Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Kubelis-López DE. Netherton Syndrome: Case Report and Review of the Literature. Skin Appendage Disord. 2021; 7(5):346-350. doi: 10.1159/000514699.
23. Hafsi W, Badri T, Rice AS. Bloom Syndrome. 2021 Jul 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 28846287.
24. Chang MW, Romero R, Scholl PR, Paller AS. Mucocutaneous manifestations of the hyper-IgM immunodeficiency syndrome. J Am Acad Dermatol. 1998; 38(2 Pt 1):191-6. doi: 10.1016/s0190-9622(98)70239-7.
25. Zamani R, Shahkarami S, Rezaei N. Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach. Allergol Immunopathol (Madr). 2021; 49(2):178-190. doi: 10.15586/aei.v49i2.61.
26. De Jesus Rojas W, Young LR. Hermansky-Pudlak Syndrome. Semin Respir Crit Care Med. 2020; 41(2):238-246. doi: 10.1055/s-0040-1708088.
27. Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM. Diagnostic and therapeutic caveats in Griscelli syndrome. Scand J Immunol. 2021; 93(6):e13034. doi: 10.1111/sji.13034.
28. Bojtor AE, Sárdy M, Maródi L. Az elsődleges immunhiány-betegségek bőrmanifesztációi [Cutaneous manifestations in primary immunodeficiency diseases]. Orv Hetil. 2018; 159(23): 937-947. doi: 10.1556/650.2018.30994.
29. Shayegan LH, Garzon MC, Morel KD, Borlack R, Vuguin PM, Margolis KG, Demirdag YY, Pereira EM, Lauren CT. CARMIL2-related immunodeficiency manifesting with photosensitivity. Pediatr Dermatol. 2020; 37(4):695-697. doi: 10.1111/pde.14173.
30. Wuyts L, Wojciechowski M, Maes P, Matthieu L, Lambert J, Aerts O. Juvenile ecthyma gangrenosum caused by Pseudomonas aeruginosa revealing an underlying neutropenia: case report and review of the literature. J Eur Acad Dermatol Venereol. 2019; 33(4):781-785. doi: 10.1111/ jdv.15420.
31. Mortaz E, Azempour E, Mansouri D, Tabarsi P, Ghazi M, Koenderman L, Roos D, Adcock IM. Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran. Int Arch Allergy Immunol. 2019;179(1):62-73. doi: 10.1159/000496181.
32. Ariue B, Janner D. Fever, leukocytosis and skin ulcerations in a four-month-old male. Leukocyte adhesion deficiency (LAD). Pediatr Infect Dis J. 1996;15(9):840-2. doi: 10.1097/00006454-199609000-00025.
33. Pichard DC, Freeman AF, Cowen EW. Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations. J Am Acad Dermatol. 2015; 73(3):367-81.
34. Khan FY, Jan SM, Mushtaq M. Papillon-Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS. Saudi Dent J. 2014; 26(1):25-8. doi: 10.1016/ j.sdentj.2013.12.004.
35. Karapınar T, Kaya Erdoğan H, Bulur I, Nurhan Saraçoğlu Z, Dündar E. Epidermodisplazia verrusiformis tanisi konulan iki kardeş: olgu sunumu epidermodisplazia verrusiformis. Güncel Pediatri 2019; 17(3):435-441
36. Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM. WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure. J Clin Immunol. 2019;39(6):532-556. doi: 10.1007/s10875-019-00665-w
37. Lehman H, Gordon C. The skin as a window into primary immune deficiency diseases: atopic dermatitis and chronic mucocutaneous candidiasis. J Allergy Clin Immunol Pract. 2019;7(3):788-798. doi: 10.1016/j.jaip.2018.11.026.
38. Milner JD. PLAID: a syndrome of complex patterns of disease and unique phenotypes. J Clin Immunol. 2015; 35(6):527-30. doi: 10.1007/s10875-015-0177-x.
39. Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018 Jul;38(5):569-578. doi: 10.1007/ s10875-018-0525-8.
40. Sharma M, Vignesh P, Tiewsoh K, Rawat A. Revisiting the complement system in systemic lupus erythematosus. Expert Rev Clin Immunol. 2020;16(4):397-408. doi: 10.1080/ 1744666X. 2020. 1745063.
41. AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges. 2020; 18(9): 943-967. doi: 10.1111/ddg.14268.
42. Shih HP, Ding JY, Yeh CF, Chi CY, Ku CL. Anti-interferon-γ autoantibody-associated immunodeficiency. Curr Opin Immunol. 2021; 72:206-214. doi: 10.1016/j.coi.2021.05.007.
43. de Wit J, Brada RJK, van Veldhuizen J, Dalm VASH, Pasmans SGMA. Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data. Allergy. 2019;74(3):464-482. doi: 10.1111/all.13681
44. Abdelhakim S, Cafone J, Basak RB. Cutaneous manifestations of primary immunodeficiency. Indian J Paediatr Dermatol 2017;18:155-9.
45. Lewis DJ, Wu JH, Boyd M, Duvic M, Feldman SR. Cutaneous manifestations of genodermatoses and primary immunodeficiency. Dermatol Online J. 2019 Jun 15;25(6):13030/qt1gj1n07j.
46. Sillevis Smitt JH, Kuijpers TW. Cutaneous manifestations of primary immunodeficiency. Curr Opin Pediatr. 2013 Aug;25(4):492-7. doi: 10.1097/MOP.0b013e3283623b9f
47. Pichard DC, Freeman AF, Cowen EW. Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis. J Am Acad Dermatol. 2015;73(3):355-64
48. Torchia D, Connelly EA. Skin manifestations of immunodeficiencies in children. G Ital Dermatol Venereol. 2010;145(2):269-87
49. Mitra A, Pollock B, Gooi J, Darling JC, Boon A, Newton-Bishop JA. Cutaneous granulomas associated with primary immunodeficiency disorders. Br J Dermatol. 2005;153(1):194-9

Details

Primary Language

Turkish

Subjects

Health Care Administration

Journal Section

Review

Authors

Öner Özdemir ^*
0000-0002-5338-9561
Türkiye

Publication Date

June 30, 2022

Submission Date

November 19, 2021

Acceptance Date

March 6, 2022

Published in Issue

Year 2022 Volume: 12 Number: 2

DOI

https://doi.org/10.31832/smj.1025702

IZ

https://izlik.org/JA95RH23EN

Cite

RIS / Bibtex

APA

Özdemir, Ö. (2022). Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Medical Journal, 12(2), 349-354. https://doi.org/10.31832/smj.1025702

AMA

1.Özdemir Ö. Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Medical Journal. 2022;12(2):349-354. doi:10.31832/smj.1025702

Chicago

Özdemir, Öner. 2022. “Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları”. Sakarya Medical Journal 12 (2): 349-54. https://doi.org/10.31832/smj.1025702.

EndNote

Özdemir Ö (June 1, 2022) Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Medical Journal 12 2 349–354.

IEEE

[1]Ö. Özdemir, “Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları”, Sakarya Medical Journal, vol. 12, no. 2, pp. 349–354, June 2022, doi: 10.31832/smj.1025702.

ISNAD

Özdemir, Öner. “Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları”. Sakarya Medical Journal 12/2 (June 1, 2022): 349-354. https://doi.org/10.31832/smj.1025702.

JAMA

1.Özdemir Ö. Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Medical Journal. 2022;12:349–354.

MLA

Özdemir, Öner. “Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları”. Sakarya Medical Journal, vol. 12, no. 2, June 2022, pp. 349-54, doi:10.31832/smj.1025702.

Vancouver

1.Öner Özdemir. Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Medical Journal. 2022 Jun. 1;12(2):349-54. doi:10.31832/smj.1025702