Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

被引：44

作者：

Has, Cristina ^{[1
]}

Fischer, Judith ^{[2
]}

机构：

[1] Univ Freiburg, Dept Dermatol, Fac Med, Med Ctr, Freiburg, Germany

[2] Univ Freiburg, Dept Human Genet, Fac Med, Med Ctr, Freiburg, Germany

来源：

EXPERIMENTAL DERMATOLOGY | 2019年 / 28卷 / 10期

关键词：

blistering; epidermal adhesion; epidermolysis bullosa; genodermatosis; mutation; HOMOZYGOUS NONSENSE MUTATION; INTERSTITIAL LUNG-DISEASE; CAUSES KINDLER SYNDROME; MOLECULAR HETEROGENEITY; INTEGRIN ALPHA-3; SKIN; SIMPLEX; DELETION; SIBLINGS; ISOFORM;

D O I：

10.1111/exd.13668

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here, we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years.

引用

页码：1146 / 1152

页数：7

共 38 条

[1] Deletion of Cd151 results in a strain-dependent glomerular disease due to severe alterations of the glomerular basement membrane [J].

Baleato, Rosa M. ;

Guthrie, Petrina L. ;

Gubler, Marie-Claire ;

Ashman, Leonie K. ;

Roselli, Severine .

AMERICAN JOURNAL OF PATHOLOGY, 2008, 173 (04) :927-937

[2]

Bruckner-Tuderman L, 2012, J INVEST DERMATOL, V132, pE2, DOI DOI 10.1038/SKINBIO.2012.2

[3] Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation [J].

Cappuccio, Gerarda ;

Pinelli, Michele ;

Torella, Annalaura ;

Alagia, Marianna ;

Auricchio, Renata ;

Staiano, Annamaria ;

Nigro, Vincenzo ;

Brunetti-Pierri, Nicola .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) :2743-2746

[4] Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve [J].

Castanon, Maria J. ;

Walko, Gernot ;

Winter, Lilli ;

Wiche, Gerhard .

HISTOCHEMISTRY AND CELL BIOLOGY, 2013, 140 (01) :33-53

[5] Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa [J].

Chmel, Nadja ;

Bornert, Olivier ;

Hausser, Ingrid ;

Gruninger, Gabriele ;

Borozkin, Wiktor ;

Kohlhase, Juergen ;

Nystroem, Alexander ;

Has, Cristina .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2018, 138 (04) :987-991

[6] A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases [J].

Chmel, Nadja ;

Danescu, Sorina ;

Gruler, Amelie ;

Kiritsi, Dimitra ;

Bruckner-Tuderman, Leena ;

Kreuter, Alexander ;

Kohlhase, Juergen ;

Has, Cristina .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2015, 135 (11) :2876-2879

[7] Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations [J].

Colombo, Elisa Adele ;

Spaccini, Luigina ;

Volpi, Ludovica ;

Negri, Gloria ;

Cittaro, Davide ;

Lazarevic, Dejan ;

Zirpoli, Salvatore ;

Farolfi, Andrea ;

Gervasini, Cristina ;

Cubellis, Maria Vittoria ;

Larizza, Lidia .

ORPHANET JOURNAL OF RARE DISEASES, 2016, 11 :1-9

[8] CD 151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin [J].

Crew, VK ;

Burton, N ;

Kagan, A ;

Green, CA ;

Levene, C ;

Flinter, F ;

Brady, RL ;

Daniels, G ;

Anstee, DJ .

BLOOD, 2004, 104 (08) :2217-2223

[9] Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification [J].

Fine, Jo-David ;

Bruckner-Tuderman, Leena ;

Eady, Robin A. J. ;

Bauer, Eugene A. ;

Bauer, Johann W. ;

Has, Cristina ;

Heagerty, Adrian ;

Hintner, Helmut ;

Hovnanian, Alain ;

Jonkman, Marcel F. ;

Leigh, Irene ;

Marinkovich, M. Peter ;

Martinez, Anna E. ;

McGrath, John A. ;

Mellerio, Jemima E. ;

Moss, Celia ;

Murrell, Dedee F. ;

Shimizu, Hiroshi ;

Uitto, Jouni ;

Woodley, David ;

Zambruno, Giovanna .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2014, 70 (06) :1103-1126

[10] Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex [J].

Gostynska, Katarzyna B. ;

Nijenhuis, Miranda ;

Lemmink, Henny ;

Pas, Hendri H. ;

Pasmooij, Anna M. G. ;

Lang, Kristin Kernland ;

Castanon, Maria J. ;

Wiche, Gerhard ;

Jonkman, Marcel F. .

HUMAN MOLECULAR GENETICS, 2015, 24 (11) :3155-3162

← 1 2 3 4 →