Epidermolysis bullosa hereditaria

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Springer, Berlin Heidelberg Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE et al (2016) The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. J Invest Dermatol 136(3):719–721 Bruckner-Tuderman L, Has C (2014) Disorders of the cutaneous basement membrane zone—the paradigm of epidermolysis bullosa. Matrix Biol 33:29–34 Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S et al (2016) Genotype, clinical course, and therapeutic decision-making in 76 infants with severe generalized junctional epidermolysis bullosa. J Invest Dermatol. https://doi.org/10.1016/j.jid.2016.06.609 Fine JD, Mellerio JE (2009) Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 61(3):387–402 (quiz 403–4) Turczynski S, Titeux M, Pironon N, Cohn HI, Murrell DF, Hovnanian A (2016) Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation. Br J Dermatol 174(5):1122–1125 Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D et al (2011) Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat 32(11):1204–1212 Saleva M, Has C, He Y, Vassileva S, Balabanova M, Miteva L (2018) Natural history of Kindler syndrome and propensity for skin cancer—case report and literature review. J Dtsch Dermatol Ges 16(3):338–341 Has C, Liu L, Bolling M, Charlesworth AV, El Hachem M, Escámez MJ et al (2019) Clinical practice guidelines for epidermolysis bullosa laboratory diagnosis. Br J Dermatol. https://doi.org/10.1111/bjd.18128 Has C, He Y (2016) Research techniques made simple: immunofluorescence antigen mapping in epidermolysis bullosa. J Invest Dermatol 136(7):e65–e71 Pohla-Gubo G, Cepeda-Valdes R, Hintner H (2010) Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol Clin 28(2):201–10, vii Has C, Küsel J, Reimer A, Hoffmann J, Schauer F, Zimmer A et al (2018) The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis. Acta Derm Venereol 98(4):437–440 Saunderson RB, Vekic DA, Mallitt K, Mahon C, Robertson SJ, Wargon O (2019) A retrospective cohort study evaluating the accuracy of clinical diagnosis compared to immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa. Br J Dermatol. https://doi.org/10.1111/bjd.17648 Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K (2018) A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. Pediatr Dermatol 35(2):188–197 Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M et al (2017) Multigene next-generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: subclassification with prognostic implications. J Invest Dermatol 137(12):2649–2652 Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A et al (2018) Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat 39(10):1349–1354 Goldschneider KR, Good J, Harrop E, Liossi C, Lynch-Jordan A, Martinez AE et al (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines. BMC Med 12:178 Krämer SM, Serrano MC, Zillmann G, Gálvez P, Araya I, Yanine N et al (2012) Oral health care for patients with epidermolysis bullosa—best clinical practice guidelines. Int J Paediatr Dent 22(Suppl 1):1–35 Mellerio JE, Robertson SJ, Bernardis C, Diem A, Fine JD, George R et al (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol 174(1):56–67 Pope E, Lara-Corrales I, Mellerio J, Martinez A, Schultz G, Burrell R et al (2012) A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol 67(5):904–917 Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP et al (2016) Progress toward treatment and cure of epidermolysis bullosa: summary of the DEBRA international research symposium EB2015. J Invest Dermatol 136(2):352–358