Index. derm.theclinics.com. Note: Page numbers of article titles are in boldface type.

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1 Note: Page numbers of article titles are in boldface type. A Adhesion and migration, the diverse functions of the laminin a3 subunit, Alopecia in epidermolysis bullosa, Amblyopia and inherited epidermolysis bullosa, , 149 Anchoring fibrils and dystrophic epidermolysis bullosa, 107 and type VII collagen, 95, 97 Animal models of epidermolysis bullosa, characterization of, dystrophic, 139, 175 and gene mutations, junctional, and Kindler syndrome, 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, 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, Cellular adhesion and laminin a3 subunit, Collagen Dermatol Clin 28 (2010) doi: /s (09)00117-x /09/$ see front matter ª 2010 Elsevier Inc. All rights reserved. type VII, Collagen XVII, Collagens of the basement membrane zone, 7 8 family of proteins, genetic heterogeneity of, 94 type VII, 7 8, type XVII, 7, Cytolinkers and plectin, 33, 35 D DEB. See Dystrophic epidermolysis bullosa. Dental caries and epidermolysis bullosa, Dermal-epidermal basement membrane zone, 1 10 Desmosomes disorders of, , Digital dermoscopy and epidermolysis bullosa nevi, , 182 Dystrophic epidermolysis bullosa, 4, 8 9, 17 18, 20, and anchoring fibrils, 107 animal models of, 139, 175 and anonychia, 155 and clinical-pathological studies of squamous cell carcinoma, dominant, 109 features of, 108 and genotype-phenotype correlations, hair changes in, molecular diagnostics of, molecular pathogenesis of, and molecular therapies, 112 and nail atrophy, 155 and nail blistering, 155 nail changes in, and nail erosions with granular tissue, 155 and onychogryphosis, 155 and ophthalmic involvement, and oral manifestations, and pachyonychia, 155 and parrot beak nail deformity, 155 rare phenotypes of, recessive, and scarring, severe generalized recessive, 108 and skin cancer, 110 and squamous cell carcinoma, derm.theclinics.com

2 192 Dystrophic (continued) subtypes of, therapeutic management of, 112 Dystrophic epidermolysis bullosa: pathogenesis and clinical features, E EBS. See Epidermolysis bullosa simplex. Ectodermal dysplasia skin fragility syndrome, clinical features of, 126 and keratinocytes, 125, 127 molecular pathology of, skin pathology of, 127 Epidermolysis bullosa, 3 4, 6 10 acquisita, 102 animal models of, and aplasia cutis congenita, 46 clinical and genetic heterogeneity of, and dental caries, dystrophic, 4, 8 9, 17 18, 20, and gene mutations, intraepidermal, junctional, 3 4, 7, 10, 17 18, 20 21, lethal acantholytic, and nail involvement, with pyloric atresia, 4, 6, 36, 43 53, and quality of life, and quality of life questionnaire, simplex, 4, 7, 17 and studies on quality of life, and tooth enamel defects, Epidermolysis bullosa nevi, dermatoscopic characteristics of, 180 and digital dermoscopy, , 182 histopathologic features of, 180 Epidermolysis bullosa simplex, 4, 7, 17, animal models of, 139 animal models of plectin-related, classification of, 23, 34 clinical features of, 23, 34 complications of, 25 diagnosis of, differential diagnosis of, 28 epidemiology of, 23 and filament clumping, and gene mutations, genes and phenotypes of, 27 hair changes in, history of, 23 and keratin disorders, with muscular dystrophy, 36 nail changes in, 153 and ophthalmic involvement, pathogenesis of, and plectin gene defects, and plectin gene mutations, 36 prevention of, 28 with pyloric atresia, 36 unusual variants of, Epidermolysis bullosa with pyloric atresia, clinical and pathologic features of, and clinical implications of molecular genetics, molecular genetics of, 50, 52 and plectin gene mutations, 52 F Fermitin family homologue, Filament clumping and epidermolysis bullosa simplex, Frameshift mutations, 18 G Gene deletions, Gene duplications, 21 Gene insertions, 21 Gene mutations. See Mutations. Genodermatosis H Hair loss in epidermolysis bullosa, in Kindler syndrome, 169 Hemidesmosome formation and laminin a3 subunit, Herlitz junctional epidermolysis bullosa, I Inheritance patterns and gene mutations, and uniparental disomy, 17 Inherited epidermolysis bullosa, and amblyopia, , 149 and conjunctival involvement, 148 and corneal involvement, and eyelid involvement, and frequency of ophthalmic involvement, lacrimal system involvement, 148 and management of ophthalmic involvement, and ocular tissue complications, and reports and studies on ocular involvement, and risk of ocular complications, 149

3 193 Integrins a3b1, 6 a6b4, 6 of the basement membrane zone, 5 6 Intraepidermal epidermolysis bullosa and oral manifestations, J JEB. See Junctional epidermolysis bullosa. Junctional epidermolysis bullosa, 3 4, 7, 10, 17 18, 20 21, animal models of, and chronic otitis media, 57 clinical manifestations of, clinical presentation of, and collagen type XVII, diagnosis of, 59 epidemiology of, extracutaneous involvement of, generalized, and genetic abnormalities, 70 hair changes in, Herlitz, history of, and immunofluorescence mapping studies, and intraoral disease, inversa, 74 and laboratory findings, and laryngo-oncho-cutaneous syndrome, and light microscopy findings, 68 localized, 74 management of, mouse models of, 64 and mutational analysis findings, nail changes in, non-herlitz, and ophthalmic findings, 57 and oral manifestations, 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, Keratin disorders and epidermolysis bullosa simplex, 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, discovery of, Kindler syndrome, , and animal models of epidermolysis bullosa, background to, clinical features of, 120 diagnosis of, 122 and fermitin family homologue, , and genodermatosis, hair changes in, 169 and keratinocyte adhesion, management of, and oral manifestations, and poikiloderma, skin biopsy findings in, ultrastructural findings in, 117 Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function, L LAMA3 gene genomic organization of, 80 structure and expression regulation, Laminin-311, 5 Laminin-332, 2 3, 55, 57, 59 Laminin-511, 3 5 Laminin a3 subunit, and cell migration and wound healing, and cellular adhesion, domain architecture and assembly isoforms, and focal contact formation, 82 and hemidesmosome formation, and LM311, 84 and LM332 deposition, and LM3B32, 84 and motility and proliferation, Laminins of the basement membrane zone, 1 5 and signal transduction, 5 Laryngo-oncho-cutaneous syndrome, clinical features of, 91 and junctional epidermolysis bullosa, management and prognosis of, pathogenesis of, presentation of, 90

4 194 Lethal acantholytic epidermolysis bullosa, clinicopathologic features of, 132 differential diagnosis of, and keratin, molecular pathology of, 132 skin pathology of, and spectrum of DSP mutations, 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, Mutations and animal models of epidermolysis bullosa, and epidermolysis bullosa, and epidermolysis bullosa simplex, frameshift, 18 and gene deletions, and gene duplications, 21 and gene insertions, 21 and inheritance patterns, and major gene rearrangements, and Mendelian diseases, 17 missense, 18 nonsense, 18 and plectin, point, recurrent, 21 splicing, transcription, 20 and type VII collagen, types of, 19 N Nail atrophy Nail blistering Nail involvement in epidermolysis bullosa, Nevi and epidermolysis bullosa, Non-Herlitz junctional epidermolysis bullosa, Nonsense mutations, 18 O Onychogryphosis Ophthalmic involvement in dystrophic epidermolysis bullosa, in epidermolysis bullosa simplex, 145, in inherited epidermolysis bullosa, in junctional epidermolysis bullosa, 57, Ophthalmic involvement in inherited epidermolysis bullosa, Oral manifestations in the epidermolysis bullosa spectrum, P Pachyonychia Parrot beak nail deformity Pectin and cytolinkers, 33, 35 Plectin, 7, binding partners of, expression of, 35 gene and protein structure of, gene mutations of, subcellular localization of, 35 Plectin gene defects lead to various forms of epidermolysis bullosa simplex, Poikiloderma and Kindler syndrome, Point mutations, Premature termination codon and nonsense mutations, 18 Pyloric atresia and epidermolysis bullosa, 4, 6, 36, 43 53, Q Quality of life measurements in epidermolysis bullosa: tools for clinical research and patient care, 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, Skin cancer and dystrophic epidermolysis bullosa, 110 Splicing mutations, Squamous cell carcinoma

5 195 T and animal models of dystrophic epidermolysis bullosa, 175 and dystrophic epidermolysis bullosa, and type VII collagen, , 173 Tooth enamel defects and epidermolysis bullosa, Transcription mutations, 20 Type VII collagen, 4, 8 9, 17 18, 20, and anchoring fibrils, 95, 97 biology of, and epidermolysis bullosa acquisita, 102 and gene mutations, and squamous cell carcinoma, , 173 Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa, Type XVII collagen 7,61-65 and bullous pemphigoid, 61 and gene mutations, and genotype-phenotype correlations, and revertant mosaicism, 64 and tooth enamel formation, 64 U Understanding the pathogenesis of recessive dystrophic epidermolysis bullosa squamous cell carcinoma, Uniparental disomy and inheritance patterns, 17 UPD. See Uniparental disomy.