Epidermolysis Bullosa: Case Series

Abstract

Aim: Epidermolysis bullosa EB is a group of inherited disorders characterized by a fragile skin and bullous lesions caused by mutations in genes encoding certain structural proteins of the basement membrane. The disease is classified into four major categories according to the level of the split within the dermoepidermal junction: simplex, junctional, dystrophic, and Kindler syndrome. Morbidity and mortality rates vary depending on the type and severity of the disease. The aim of this study was to assess the clinical features and prognosis of the newborn infant with EB.Material And Methods: Patients diagnosed with EB and followed-up between January 2013 and January 2019 were retrospectively evaluated. Demographic characteristics, diagnosis and concomitant anomalies if any were retrieved from patient records.Results: We identified 10 neonates nine term and one preterm neonates, five males and five females treated during the study period. Seven of the neonates received a clinical and three a histopathologic diagnosis. Six of those with a clinical diagnosis and two of those with a histopathologic diagnosis had EB simplex, one patient with a histopathologic diagnosis had dystrophic EB and one with a clinical diagnosis junctional EB. All patients had cutaneous manifestations and eight had additional mucosal involvement. Skin lesions were observed particularly on the hands and feet 10/10 but also on the face 9/10 , and trunk 6/10 . Three of the cases had extracutaneous organ involvement.Conclusion: EB is a multisystem disorder with high mortality and morbidity. The prognosis is dependent on disease severity, type and the presence or absence of extracutaneous organ involvement. Patients with junctional or dystrophic EB should be investigated for extracutaneous involvement.

Keywords

• Blister,newborn,basement membrane

Epidermolizis Bülloza: Olgu Serisi

Abstract

Amaç: Epidermolizis Bülloza EB , ciltte bulunan yapısal proteinlerdeki mutasyonların neden olduğu kırılgan bir cilt ve büllerle karakterize bir grup genetik hastalıktır. Cilt katmanları arasındaki ayrışma düzeyine bağlı olarak hastalık dört ana gruba ayrılır: EB simpleks, “junctional” EB, distrofik EB ve Kindler sendromu. Mortalite ve morbidite, hastalık tipine ve şiddetine göre değişmektedir. Bu çalışma, yenidoğan döneminde tanı alan EB’li hastaların klinik özelliklerini ve prognozlarını araştırmak amacıyla yapılmıştır.Gereç ve Yöntemler: Ocak 2013 – Ocak 2019 tarihleri arasında, kliniğimizde izlenen ve EB tanısı alan 10 olgu retrospektif olarak değerlendirildi. Hastaların demografik özellikleri, tanıları ve varsa eşlik eden anomalileri kayıt edildi.Bulgular: Olguların % 90’ı term, % 1’i preterm olup erkek/kadın oranı 1 olarak saptandı. Hastaların %70’i klinik, %30’u ise histopatolojik olarak EB tanısı aldı. Histopatolojik incelemeler sonucu EB tanısı alan 3 olgunun 2’inde EB simpleks, 1’inde distrofik EB saptanırken klinik olarak tanı alan 7 hastanın 6’ında EB simpleks, 1’inde ise junctional EB düşünüldü. Olguların %100’ünde cilt tutulumu, %80’inde ise mukoza tutulumu saptandı. Cilt lezyonları en sık, el ve ayaklarda %100 , yüzde %90 , ve gövdede %60 görülmekteydi. Olgularımızın 3’üne %30 ekstrakutanöz organ tutulumu eşlik etmekteydi.Sonuç: EB, yüksek mortalite ve morbiditeye sahip multisistemik bir hastalıktır. Junctional ya da distrofik EB’e sahip hastalarda ekstrakutanöz tutulum açısından dikkatli olunmalıdır. Hastalığın şiddeti, yayılımı ve ekstrakutanöz organ tutulumu prognozu belirlemektedir.

Keywords

• Kabarcık,yenidoğan,bazal membran

References

1. Has C, Fischer J. Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes. Exp Dermatol 2018;00:1-7.
2. Reimer A, Bruckner-Tuderman L, Ott H. Mapping health care of rare dise- ases: the example of epidermolysis bullosa in Germany. Orphanet J Rare Dis 2018;13(1):197.
3. Watkins J. Diagnosis, treatment and management of epidermolysis bullo- sa. Br J Nurs 2016;25(8):428-431.
4. Gonzalez ME. Evaluation and treatment of the newborn with epidermoly- sis bullosa. Semin Perinatol 2013;37(1):32-39.
5. Laimer M, Prodinger C, Bauer JW. Hereditary epidermolysis bullosa. J Dtsch Dermatol Ges 2015;13(11):1125-1133.
6. Fine JD, Bruckner-Tuderman L, Eady RAJ, Bauer EA, Bauer JW, Has C, ve ark. Inherited epidermolysis bullosa: updated recommendations on diag- nosis and classification. J Am Acad Dermatol 2014;70(6):1103-1126.
7. Sianez-Gonzalez C, Pezoa-Jares R, Salas-Alanis JC. Congenital epider- molysis bullosa: a review. Actas Dermosifiliogr 2009;100(10):842-56.
8. Laimer M, Bauer J, Murrell DF. Epidemiology, pathogenesis, classificati- on, and clinical features of epidermolysis bullosa. UpToDate 2018. Ava- ilable from: https://www.uptodate.com/contents/epidemiology-pathoge- nesis-classification-and-clinical-features-of-epidermolysis-bullosa.

9. Sa’d JA, Indelman M, Pfendner E, Falik-Zaccai TC, Mizrachi-Koren M, Sha- lev S, ve ark. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol 2006;126(4):777-781.
10. Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K. A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatr Dermatol 2018;35:188– 197.
11. Bruckner A, Murrell DF. Diagnosis of epidermolysis bullosa. UpToDa- te, 2018. Available from: https://www.uptodate.com/contents/diagno- sis-of-epidermolysis-bullosa.
12. Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010;37(3):214-219.
13. Li AW, Prindaville B, Bateman ST, Gibson TE, Wiss K. Inpatient mana- gement of children with recessive dystrophic epidermolysis bullosa: A review. Pediatr Dermatol 2017;34:647– 655.
14. Murrell DF. Overview of the management of epidermolysis bullosa. Up- toDate 2018. Available from: https://www.uptodate.com/contents/over- view-of-the-management-of-epidermolysis-bullosa
15. Bernardis C, Box R. Surgery of the hand in recessive dystrophic epider- molysis bullosa. Dermatol Clin 2010; 28(2): 335-41.
16. Kulalı F, Bas AY, Kale Y, Celik IH, Demirel N, Apaydın S. Type VI aplasia cutis congenita: Bart’s syndrome. Case Rep Dermatol Med 2015; Article ID 549825: 3 pages.
17. Arima M, Tsukamotoet S, Akiyama R, Nishiyama K, Kohno R, Tachibana T, ve ark. Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. J AAPOS 2018;22(5):401-403.
18. Jalanko H., Holmberg C. (2016) Congenital Nephrotic Syndrome. In: Av- ner E., Harmon W., Niaudet P., Yoshikawa N., Emma F., Goldstein S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. 2016. p. 753-776.
19. Cohn HI, Teng JM. Advancement in management of epidermolysis bullo- sa. Curr Opin Pediatr 2016;28(4):507-516.
20. Denyer J. Management of the infant with epidermolysis bullosa. Infant 2009;5(6):185-188. Available from: http://www.infantjournal.co.uk/pdf/ inf_030_oly.pdf