Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Özdemir, Öner

doi:10.31832/smj.1025702

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Öner ÖZDEMİR (Sakarya Üniversitesi, Tıp Fakültesi, Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk İmmünolojisi ve Alerji Hastalıkları Bilim Dalı, Sakarya, Türkiye)

Sakarya Tıp Dergisi

1 0

Yıl: 2022 Cilt: 12 Sayı: 2 Sayfa Aralığı: 349 - 354 Metin Dili: Türkçe DOI: 10.31832/smj.1025702 İndeks Tarihi: 08-09-2022

Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları

Öz:

Primer immün yetmezlik hastalık tipleri günümüzde bilindiği gibi 450 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 apseleri 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 cilt bulguları görünmesine rağmen, onu enfeksiyöz olmayan (non-enfeksiyöz) tipte immüno-alerjik bulgu olarak egzama (atopik dermatit) izler. İmmüno-alerjik olmayan bulgulardan bazıları ise epidermal displazi, telenjiektazi vb. belirtilerdir. Bu deri belirtileri, bazen primer immün yetmezlik hastalığının ilk geliş bulgularından biri olabilir. Her zaman bu bulgular çok özgün de olmayabilir.

Anahtar Kelime: cilt immünyetmezlik granülom eritrodermi

Skin Manifestations in Primary Immunodeficiency Diseases

Öz:

Primary immunodeficiency diseases, as it is known today, have exceeded 450 diseases. With the increase in awareness and the development of diagnostic methods, they have ceased to be seen as rare and have begun to become common diseases. The main purpose of this review is to approach and recognize these diseases in terms of skin findings. Although 2/10 warning signs of these diseases are skin findings, they suggest only (bacterial/fungal) infectious skin findings. The first is recurrent deep skin abscesses and the other is persistent fungal infection on the skin (tinea/dermatophytosis). It should be known that skin findings are frequently seen in these diseases. Although signs of infections (bacterial) are the most common, it is followed by eczema as a non-infectious immuno-allergic finding. Non-immuno-allergic findings are like epidermal dysplasia, telangiectasia etc. These manifestations may sometimes be the first sign of presentations of primary immunodeficiency diseases, but they may not always be very specific as well.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

1. Bousfiha A, Jeddane L, Picard C, et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenoty- pical 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. Accessed on 28.01.2022
5. Tanır Başaranoğlu S, Kaplan S, Aykaç K, et al. 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, et al. 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 immunodefi- ciency 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, et al. Cutaneous manifestations of primary ımmunodeficiency Di- seases 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 immu- nodeficiency 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;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, et al. 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 cli- nical 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, et al. 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): Stat- Pearls Publishing; 2021 Jan–. PMID: 28846287.
24. Chang MW, Romero R, Scholl PR, Paller AS. Mucocutaneous manifestations of the hyper-IgM immuno- deficiency 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 diffe- rential 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, et al. 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 mani- festations in primary immunodeficiency diseases]. Orv Hetil. 2018; 159(23): 937-947. doi: 10.1556/650.20 18.30994.
29. Shayegan LH, Garzon MC, Morel KD, et al. CARMIL2-related immunodeficiency manifesting with photosen- sitivity. 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, et al. 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 ad- hesion 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.sden tj.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, Gene- tics, Pathogenesis, and Treatment. J Clin Immunol. 2018; 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 ery- thematosus. Expert Rev Clin Immunol. 2020;16(4):397-408. doi: 10.1080/ 1744666X. 2020. 174506 3
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;25(6):13030/qt1gj1n07j.
46. Sillevis Smitt JH, Kuijpers TW. Cutaneous manifestations of primary immunodeficiency. Curr Opin Pediatr. 2013;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

APA	Özdemir Ö (2022). Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. , 349 - 354. 10.31832/smj.1025702
Chicago	Özdemir Öner Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. (2022): 349 - 354. 10.31832/smj.1025702
MLA	Özdemir Öner Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. , 2022, ss.349 - 354. 10.31832/smj.1025702
AMA	Özdemir Ö Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. . 2022; 349 - 354. 10.31832/smj.1025702
Vancouver	Özdemir Ö Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. . 2022; 349 - 354. 10.31832/smj.1025702
IEEE	Özdemir Ö "Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları." , ss.349 - 354, 2022. 10.31832/smj.1025702
ISNAD	Özdemir, Öner. "Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları". (2022), 349-354. https://doi.org/10.31832/smj.1025702

APA	Özdemir Ö (2022). Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Tıp Dergisi, 12(2), 349 - 354. 10.31832/smj.1025702
Chicago	Özdemir Öner Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Tıp Dergisi 12, no.2 (2022): 349 - 354. 10.31832/smj.1025702
MLA	Özdemir Öner Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Tıp Dergisi, vol.12, no.2, 2022, ss.349 - 354. 10.31832/smj.1025702
AMA	Özdemir Ö Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Tıp Dergisi. 2022; 12(2): 349 - 354. 10.31832/smj.1025702
Vancouver	Özdemir Ö Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları. Sakarya Tıp Dergisi. 2022; 12(2): 349 - 354. 10.31832/smj.1025702
IEEE	Özdemir Ö "Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları." Sakarya Tıp Dergisi, 12, ss.349 - 354, 2022. 10.31832/smj.1025702
ISNAD	Özdemir, Öner. "Primer İmmün Yetmezlik Hastalıklarında Cilt Bulguları". Sakarya Tıp Dergisi 12/2 (2022), 349-354. https://doi.org/10.31832/smj.1025702