Note: Page numbers of article titles are in boldface type. A Adhesion and migration, the diverse functions of the laminin a3 subunit, 79 87 Alopecia in epidermolysis bullosa, 165 169 Amblyopia and inherited epidermolysis bullosa, 143 145, 149 Anchoring fibrils and dystrophic epidermolysis bullosa, 107 and type VII collagen, 95, 97 Animal models of epidermolysis bullosa, 137 142 characterization of, 137 140 dystrophic, 139, 175 and gene mutations, 137 140 junctional, 137 139 and Kindler syndrome, 139 140 simplex, 139 Anonychia Aplasia cutis congenita and epidermolysis bullosa, 46 B Basement membrane zone and blistering disorders, 3 5, 7 10 in cancer, 9 10 collagens of, 7 8 integrins of, 5 6 keratin linkers of, 6 7 laminins of, 1 5 in skin development, 10 and squamous cell carcinoma, 9 10 ubiquitous components of, 8 9 Blistering disorders and basement membrane zone, 3 5, 7 10 and epidermolysis bullosa, 23 28, 43 53, 67 76, 107 112 BMZ. See Basement membrane zone. Bullous pemphigoid antigen 1, 6 7 C Cancer and basement membrane zone, 9 10 Cell migration and laminin a3 subunit, 82 84 Cellular adhesion and laminin a3 subunit, 81 82 Collagen Dermatol Clin 28 (2010) 191 195 doi:10.1016/s0733-8635(09)00117-x 0733-8635/09/$ see front matter ª 2010 Elsevier Inc. All rights reserved. type VII, 173 174 Collagen XVII, 61 66 Collagens of the basement membrane zone, 7 8 family of proteins, 93 94 genetic heterogeneity of, 94 type VII, 7 8, 93 103 type XVII, 7, 61 64 Cytolinkers and plectin, 33, 35 D DEB. See Dystrophic epidermolysis bullosa. Dental caries and epidermolysis bullosa, 160 163 Dermal-epidermal basement membrane zone, 1 10 Desmosomes disorders of, 125 128, 131 134 Digital dermoscopy and epidermolysis bullosa nevi, 179 180, 182 Dystrophic epidermolysis bullosa, 4, 8 9, 17 18, 20, 93 103 and anchoring fibrils, 107 animal models of, 139, 175 and anonychia, 155 and clinical-pathological studies of squamous cell carcinoma, 172 173 dominant, 109 features of, 108 and genotype-phenotype correlations, 111 112 hair changes in, 168 169 molecular diagnostics of, 110 111 molecular pathogenesis of, 107 108 and molecular therapies, 112 and nail atrophy, 155 and nail blistering, 155 nail changes in, 154 155 and nail erosions with granular tissue, 155 and onychogryphosis, 155 and ophthalmic involvement, 143 149 and oral manifestations, 161 162 and pachyonychia, 155 and parrot beak nail deformity, 155 rare phenotypes of, 109 110 recessive, 108 109 and scarring, 107 111 severe generalized recessive, 108 and skin cancer, 110 and squamous cell carcinoma, 171 176 derm.theclinics.com
192 Dystrophic (continued) subtypes of, 108 110 therapeutic management of, 112 Dystrophic epidermolysis bullosa: pathogenesis and clinical features, 107 114 E EBS. See Epidermolysis bullosa simplex. Ectodermal dysplasia skin fragility syndrome, 125 129 clinical features of, 126 and keratinocytes, 125, 127 molecular pathology of, 127 128 skin pathology of, 127 Epidermolysis bullosa, 3 4, 6 10 acquisita, 102 animal models of, 137 140 and aplasia cutis congenita, 46 clinical and genetic heterogeneity of, 43 46 and dental caries, 160 163 dystrophic, 4, 8 9, 17 18, 20, 93 103 and gene mutations, 17 21 intraepidermal, 159 160 junctional, 3 4, 7, 10, 17 18, 20 21, 55 60 lethal acantholytic, 131 134 and nail involvement, 153 157 with pyloric atresia, 4, 6, 36, 43 53, 138 139 and quality of life, 185 190 and quality of life questionnaire, 188 189 simplex, 4, 7, 17 and studies on quality of life, 186 189 and tooth enamel defects, 159 163 Epidermolysis bullosa nevi, 179 183 dermatoscopic characteristics of, 180 and digital dermoscopy, 179 180, 182 histopathologic features of, 180 Epidermolysis bullosa simplex, 4, 7, 17, 23 32 animal models of, 139 animal models of plectin-related, 36 38 classification of, 23, 34 clinical features of, 23, 34 complications of, 25 diagnosis of, 27 28 differential diagnosis of, 28 epidemiology of, 23 and filament clumping, 24 25 and gene mutations, 23 28 genes and phenotypes of, 27 hair changes in, 166 167 history of, 23 and keratin disorders, 23 28 with muscular dystrophy, 36 nail changes in, 153 and ophthalmic involvement, 143 149 pathogenesis of, 25 26 and plectin gene defects, 33 38 and plectin gene mutations, 36 prevention of, 28 with pyloric atresia, 36 unusual variants of, 26 27 Epidermolysis bullosa with pyloric atresia, 43 54 clinical and pathologic features of, 49 50 and clinical implications of molecular genetics, 52 53 molecular genetics of, 50, 52 and plectin gene mutations, 52 F Fermitin family homologue, 119 123 Filament clumping and epidermolysis bullosa simplex, 24 25 Frameshift mutations, 18 G Gene deletions, 20 21 Gene duplications, 21 Gene insertions, 21 Gene mutations. See Mutations. Genodermatosis H Hair loss in epidermolysis bullosa, 165 169 in Kindler syndrome, 169 Hemidesmosome formation and laminin a3 subunit, 81 82 Herlitz junctional epidermolysis bullosa, 55 60 I Inheritance patterns and gene mutations, 17 20 and uniparental disomy, 17 Inherited epidermolysis bullosa, 143 151 and amblyopia, 143 145, 149 and conjunctival involvement, 148 and corneal involvement, 148 149 and eyelid involvement, 145 148 and frequency of ophthalmic involvement, 143 144 lacrimal system involvement, 148 and management of ophthalmic involvement, 149 151 and ocular tissue complications, 144 145 and reports and studies on ocular involvement, 143 147 and risk of ocular complications, 149
193 Integrins a3b1, 6 a6b4, 6 of the basement membrane zone, 5 6 Intraepidermal epidermolysis bullosa and oral manifestations, 159 160 J JEB. See Junctional epidermolysis bullosa. Junctional epidermolysis bullosa, 3 4, 7, 10, 17 18, 20 21, 55 60 animal models of, 137 139 and chronic otitis media, 57 clinical manifestations of, 70 73 clinical presentation of, 56 59 and collagen type XVII, 61 64 diagnosis of, 59 epidemiology of, 55 56 extracutaneous involvement of, 56 59 generalized, 72 73 and genetic abnormalities, 70 hair changes in, 167 168 Herlitz, 55 60 history of, 67 68 and immunofluorescence mapping studies, 68 69 and intraoral disease, 57 58 inversa, 74 and laboratory findings, 68 70 and laryngo-oncho-cutaneous syndrome, 89 92 and light microscopy findings, 68 localized, 74 management of, 74 76 mouse models of, 64 and mutational analysis findings, 69 70 nail changes in, 153 154 non-herlitz, 67 76 and ophthalmic findings, 57 and oral manifestations, 160 161 progressiva, 74 skin involvement of, 56 and transmission electron microscopy findings, 68 types of, 68 and ultrastructural alterations, 69 and upper respiratory tract involvement, 57 and urologic abnormalities, 58 K Keratin and lethal acantholytic epidermolysis bullosa, 131 134 Keratin disorders and epidermolysis bullosa simplex, 23 28 Keratin linkers of the basement membrane zone, 6 7 bullous pemphigoid antigen 1, 6 7 plectin, 7 Keratinocyte adhesion Keratinocyte proliferation Keratinocytes and ectodermal dysplasia skin fragility syndrome, 125, 127 KIND1 gene, 115 116 discovery of, 116 117 Kindler syndrome, 115 117, 119 124 and animal models of epidermolysis bullosa, 139 140 background to, 119 120 clinical features of, 120 diagnosis of, 122 and fermitin family homologue, 115 117, 119 123 and genodermatosis, 115 117 hair changes in, 169 and keratinocyte adhesion, 115 117 management of, 122 123 and oral manifestations, 162 163 and poikiloderma, 119 123 skin biopsy findings in, 120 122 ultrastructural findings in, 117 Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function, 115 118 L LAMA3 gene genomic organization of, 80 structure and expression regulation, 79 80 Laminin-311, 5 Laminin-332, 2 3, 55, 57, 59 Laminin-511, 3 5 Laminin a3 subunit, 79 84 and cell migration and wound healing, 82 84 and cellular adhesion, 81 82 domain architecture and assembly isoforms, 80 81 and focal contact formation, 82 and hemidesmosome formation, 81 82 and LM311, 84 and LM332 deposition, 83 84 and LM3B32, 84 and motility and proliferation, 82 83 Laminins of the basement membrane zone, 1 5 and signal transduction, 5 Laryngo-oncho-cutaneous syndrome, 89 92 clinical features of, 91 and junctional epidermolysis bullosa, 89 92 management and prognosis of, 91 92 pathogenesis of, 89 91 presentation of, 90
194 Lethal acantholytic epidermolysis bullosa, 131 135 clinicopathologic features of, 132 differential diagnosis of, 132 133 and keratin, 131 134 molecular pathology of, 132 skin pathology of, 131 132 and spectrum of DSP mutations, 133 134 LOC. See Laryngo-oncho-cutaneous syndrome. M Mendelian diseases and gene mutations, 17 Missense mutations, 18 Muscular dystrophy and epidermolysis bullosa simplex, 36 Mutation mechanisms, 17 22 Mutations and animal models of epidermolysis bullosa, 137 140 and epidermolysis bullosa, 17 21 and epidermolysis bullosa simplex, 23 28 frameshift, 18 and gene deletions, 20 21 and gene duplications, 21 and gene insertions, 21 and inheritance patterns, 17 20 and major gene rearrangements, 20 21 and Mendelian diseases, 17 missense, 18 nonsense, 18 and plectin, 36 37 point, 18 20 recurrent, 21 splicing, 18 20 transcription, 20 and type VII collagen, 97 102 types of, 19 N Nail atrophy Nail blistering Nail involvement in epidermolysis bullosa, 153 157 Nevi and epidermolysis bullosa, 179 182 Non-Herlitz junctional epidermolysis bullosa, 67 77 Nonsense mutations, 18 O Onychogryphosis Ophthalmic involvement in dystrophic epidermolysis bullosa, 143 149 in epidermolysis bullosa simplex, 145, 147 149 in inherited epidermolysis bullosa, 143 151 in junctional epidermolysis bullosa, 57, 143 149 Ophthalmic involvement in inherited epidermolysis bullosa, 143 152 Oral manifestations in the epidermolysis bullosa spectrum, 159 164 P Pachyonychia Parrot beak nail deformity Pectin and cytolinkers, 33, 35 Plectin, 7, 33 38 binding partners of, 35 36 expression of, 35 gene and protein structure of, 33 35 gene mutations of, 36 37 subcellular localization of, 35 Plectin gene defects lead to various forms of epidermolysis bullosa simplex, 33 41 Poikiloderma and Kindler syndrome, 119 123 Point mutations, 18 20 Premature termination codon and nonsense mutations, 18 Pyloric atresia and epidermolysis bullosa, 4, 6, 36, 43 53, 138 139 Q Quality of life measurements in epidermolysis bullosa: tools for clinical research and patient care, 185 190 R Recurrent mutations, 21 Revertant mosaicism and collagen type XVII, 64 Role of dermal-epidermal basement membrane zone in skin, cancer, and developmental disorders, 1 16 S Scarring and dystrophic epidermolysis bullosa, 107 111 Skin cancer and dystrophic epidermolysis bullosa, 110 Splicing mutations, 18 20 Squamous cell carcinoma
195 T and animal models of dystrophic epidermolysis bullosa, 175 and dystrophic epidermolysis bullosa, 171 176 and type VII collagen, 102 103, 173 Tooth enamel defects and epidermolysis bullosa, 159 163 Transcription mutations, 20 Type VII collagen, 4, 8 9, 17 18, 20, 93 103 and anchoring fibrils, 95, 97 biology of, 94 95 and epidermolysis bullosa acquisita, 102 and gene mutations, 97 102 and squamous cell carcinoma, 102 103, 173 Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa, 93 105 Type XVII collagen 7,61-65 and bullous pemphigoid, 61 and gene mutations, 63 64 and genotype-phenotype correlations, 63 64 and revertant mosaicism, 64 and tooth enamel formation, 64 U Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma, 171 178 Uniparental disomy and inheritance patterns, 17 UPD. See Uniparental disomy.