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Quoted phrase not found in phrase index: "Acral dystrophic epidermolysis bullosa"
Page 1
Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.
Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L. Amber KT, et al. Clin Rev Allergy Immunol. 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4. Clin Rev Allergy Immunol. 2018. PMID: 28779299 Review.
Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphi …
Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing …
Dominant pretibial dystrophic epidermolysis bullosa in an Italian family.
Vaccaro M, Guarneri C, Guarneri F, Lentini M, Cannavò SP. Vaccaro M, et al. Pediatr Dermatol. 2020 Nov;37(6):1207-1209. doi: 10.1111/pde.14331. Epub 2020 Aug 25. Pediatr Dermatol. 2020. PMID: 32840914
We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. ...Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen …
We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great a …
Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia.
Bishnoi P, Ng YZ, Wei H, Tan EC, Lunny DP, Wong XFCC, Kin Fon L, Gondokaryono SP, Diana IA, Common JEA, Koh MJA, Lane EB. Bishnoi P, et al. Am J Med Genet A. 2021 Feb;185(2):625-630. doi: 10.1002/ajmg.a.61975. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258232
Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. ...Here, we describe the clinical a …
Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa …
Profiling trial burden and patients' attitudes to improve clinical research in epidermolysis bullosa.
Prodinger C, Diem A, Ude-Schoder K, Piñón-Hofbauer J, Kitzmueller S, Bauer JW, Laimer M. Prodinger C, et al. Orphanet J Rare Dis. 2020 Jul 10;15(1):182. doi: 10.1186/s13023-020-01443-3. Orphanet J Rare Dis. 2020. PMID: 32650809 Free PMC article.
BACKGROUND: Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. ...RESULTS: Thirty-six individuals (mean age 25.7 years), diagnosed for recessive dystrophic EB (36.1%), EB simplex (33.4%), juncti …
BACKGROUND: Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality …
Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.
Di Zenzo G, Floriddia G, Rossi S, Mariotti F, Primerano A, Condorelli AG, Didona B, Castiglia D. Di Zenzo G, et al. Front Immunol. 2022 Jul 29;13:929286. doi: 10.3389/fimmu.2022.929286. eCollection 2022. Front Immunol. 2022. PMID: 35967298 Free PMC article.
Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis bullosa (EB), has been described, but its effects on disease course remain unclear. We report a 69-year-old individual with conge …
Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis …
Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
Dharma B, Moss C, McGrath JA, Mellerio JE, Ilchyshyn A. Dharma B, et al. Clin Exp Dermatol. 2001 Jan;26(1):93-6. Clin Exp Dermatol. 2001. PMID: 11260188
Nail dystrophy, a well-recognized feature of dystrophic epidermolysis bullosa (EB), is usually accompanied by skin fragility. ...However, in the fourth generation, an infant presented with nail dystrophy, acral blistering and milia, raising the possibi …
Nail dystrophy, a well-recognized feature of dystrophic epidermolysis bullosa (EB), is usually accompanied by skin frag …
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.
Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T. Shimizu H, et al. Arch Dermatol. 1997 Sep;133(9):1111-7. Arch Dermatol. 1997. PMID: 9301588 Review.
The purpose of this study was to clarify the nature of the bullous component of Kindler syndrome and to determine whether this inherited skin disorder represents a variant of dystrophic epidermolysis bullosa or a unique independent clinical entity. ...CONCLUS …
The purpose of this study was to clarify the nature of the bullous component of Kindler syndrome and to determine whether this inherited ski …
Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review.
McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA. McGrath JA, et al. Br J Dermatol. 1992 May;126(5):421-30. doi: 10.1111/j.1365-2133.1992.tb11813.x. Br J Dermatol. 1992. PMID: 1610681
The clinicopathological features of 22 cases of the Dowling-Meara form of epidermolysis bullosa simplex (DM-EBS) (11 males, 11 females; aged 5 days-46 years) were reviewed using data collected over a 10-year period. ...Early blisters were often large (up to 5 cm in …
The clinicopathological features of 22 cases of the Dowling-Meara form of epidermolysis bullosa simplex (DM-EBS) (11 males, 11 …
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. ...Specifically, 27 displayed the severe generalized subtype, eight the other generalized subtype and six a localized phenotype (two pretibial, three acra …
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. ...Specifically, …
Severe infantile epidermolysis bullosa simplex. Dowling-Meara type.
Buchbinder LH, Lucky AW, Ballard E, Stanley JR, Stolar E, Tabas M, Bauer EA, Paller AS. Buchbinder LH, et al. Arch Dermatol. 1986 Feb;122(2):190-8. Arch Dermatol. 1986. PMID: 3511860
We encountered eight patients with epidermolysis bullosa (EB) simplex of the Dowling-Meara type, who presented in infancy with severe blistering and were originally clinically thought to have recessive dystrophic EB. ...The findings of severe extensive bliste …
We encountered eight patients with epidermolysis bullosa (EB) simplex of the Dowling-Meara type, who presented in infancy with …
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