E

 

Epidermolizis bülloza-basit tip (epidermolysis bullosa simplex)

Kalıtsal

Natal başlar

Deri kırılgan

Mukozalar kırılgan

En küçük travmalara bile duyarlılık

Deri ve mukozaları etkileyen vezikülobüllöz patolojiler

Eller ve ayaklar özellikle etkilenir

Kümeler ya da halkalar oluşturan büller

Büllerde sikatris bırakmadan iyileşme

İyileşme alanlarında pigmante maküller

  • Generalize tip

Ağız mukozasında büller/veziküller

Deride iz bırakmayan büller

Palmoplantar hiperkeratoz

Yaş aldıkça düzelme

  • Weber-Cockayne tipi (hafif tip)

Emekleyen bebeklerde ellerde ve ayaklarda büller

Palmoplantar hiperkeratoz

Dowling-Meara tipi (ağır tip)

Vücudun her yerinde bül kümeleri

Ağız mukozasında büller/veziküller

Palmoplantar hiperkeratoz

Distrofik tırnaklar

  • Koebner tipi

Doğumdan hemen sonra belirir

Yaygın (generalize) tek tek bül oluşumu

  • Müsküler distrofik tip

Kalıtsal

Gelişme geriliği

Gözde keratit

Ağız mukozasında büller/erozyonlar

Mine hipoplazisi

Yaygın çürükler

Bebeklerde solunum güçlüğü

Üretra darlığı

Yaygın bül oluşumu

Kırılgan deri

Saçlı deride alopesi

Sikatris az/yok

Palmoplantar hiperkeratoz

Distrofik tırnaklar

Müsküler distrofi bulguları

Kas dokusunda dejeneratif fibrosis

Anemi

  • Otosomal resessif tip

Kalıtsal

Ağız mukozasında büller/erozyonlar

Deride yineleyen büller

Büller yerel ya da yaygın

Tırnaklar kalın

Tırnaklarda çizgilenmeler

Sıcak havalarda reaktivasyon

Yaş aldıkça düzelmeler

  • Pigmentli tip

Melanotik maküller

Yaygın (generalize) tek tek bül oluşumu

Palmoplantar hiperkeratoz

Distrofik tırnaklar

 

  • Gedde-Dahl T. Sixteen types of epidermolysis bullosa. Acta Dermato-Venereologica, 95 (suppl.): 74-87, 1981

  • McGrath JA, Ishida-Yamamoto A, Tidman MJ, et al. Epidermolysis bullosa simplex (Dowling-Meara): a clinicopathological review. British Journal of Dermatology, 126: 421-430, 1992

  • Pulkkinen L, Smith FJD, Shimizu H, et al. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Human Molecular Genetics, 5: 1539-1546, 1996

  • Hu ZL, Smith L, Martins S, et al. Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote. Journal of Investigative Dermatology, 109: 360-364, 1997

  • Fine JD, Bauer EA, McGuire J, Moshell A. Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Registry. Johns Hopkins University Press, Baltimore, MD, 1999

  • Shemanko CS, Horn HM, Keohane SG, et al. Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. British Journal of Dermatology, 142: 315-320, 2000

  • Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: Rimoin DL, Connor MJ, Pyeritz RE, Korf BR, Emery AEH, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. 4 edt., pp.3810-3896, Churchill Livingstone Publishers, New York, 2002

  • Yasukawa K, Sawamura D, McMillan JR, et al. Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. Journal of Biological Chemistry, 277: 23670-23674, 2002

  • Pfendner EG, Bruckner A, Conget P, et al. Basık science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.  International Journal of Dermatology, 46: 781–794, 2007

  • Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Journal of the American Academy of Dermatology, 58(6):931-950, 2008

  • Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. Journal of the American Academy of Dermatology, 61:367–384, 2009

  • Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. Journal of the American Academy of Dermatology, 61:387–402, 2009

  • Coulombe PA, Kerns ML, Fuchs E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. Journal of Clinical Investigation, 119(7):1784-1793, 2009

  • Fine JD, Johnson LB, Weiner M, et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. Journal of the American Academy of Dermatology, 60(2):203-211, 2009

  • Abitbol RJ, Zhou LH. Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. Archives of Dermatology, 145:13–15, 2009

  • Arin MJ, Grimberg G, Schumann H, et al. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. British Journal of Dermatology, 162:1365–1369, 2010

  • Selcen D, Juel VC, Hobson-Webb LD, et al. Myasthenic syndrome caused by plectinopathy. Neurology, 76: 327-336, 2011

  • Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.  Journal of the American Academy of Dermatology, 70:1103–1126, 2014

  • Chiaverini C, Fontas E, Vabres P, et al. Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe. British Journal of Dermatology, 173:563–564, 2015

  • Kyrova J, Kopeckova L, Buckova H, et al. Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. Journal of Dermatological Case Reports, 30;10(3):39-48, 2016

  • Lin Z, Li S, Feng C, et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nature Genetics, 48: 1508-1516, 2016

  • He Y, Maier K, Leppert J, et al. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. American Journal of Human Genetics, 99: 1395-1404, 2016