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Quoted phrase not found in phrase index: "Dominant dystrophic epidermolysis bullosa with absence of skin"
Page 1
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E. Martinez-Moreno A, et al. Pediatr Dermatol. 2020 Sep;37(5):821-826. doi: 10.1111/pde.14245. Epub 2020 Jul 20. Pediatr Dermatol. 2020. PMID: 32686866 Review.
BACKGROUND/OBJECTIVES: Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnormalities, and epidermolysis bullosa (EB). ...CONCLUSION: Epidermolysis bullosa with CAS is a clinically heterogeneous diso …
BACKGROUND/OBJECTIVES: Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnormalities, …
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. ...Next-generation sequencing identifi …
Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis …
Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis.
Chacón-Solano E, León C, Carretero M, García M, Sánchez-Domínguez R, Quero F, Méndez-Jiménez E, Bonafont J, Ruiz-Mezcua B, Escámez MJ, Larcher F, Del Río M. Chacón-Solano E, et al. Matrix Biol. 2022 Aug;111:189-206. doi: 10.1016/j.matbio.2022.06.007. Epub 2022 Jun 30. Matrix Biol. 2022. PMID: 35779740 Free article.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic extracellular matrix disease caused by deficiency in type VII collagen (Col VII). The disease manifests with devastating mucocutaneous fragility leading to progressive fibrosis and metastatic squa …
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic extracellular matrix disease caused by deficiency in typ …
Ultrastructural features of epidermolysis bullosa.
Hanna W, Silverman E, Boxall L, Krafchik BR. Hanna W, et al. Ultrastruct Pathol. 1983 Jul;5(1):29-36. doi: 10.3109/01913128309141816. Ultrastruct Pathol. 1983. PMID: 6649087
Epidermolysis bullosa (EB), a heterogeneous group of hereditary diseases, varies in mode of inheritance, extent, severity, and presence or absence of scarring and dystrophy. ...Subtyping by ultrastructural findings in normal and blistered skin biopsies was as …
Epidermolysis bullosa (EB), a heterogeneous group of hereditary diseases, varies in mode of inheritance, extent, severity, and …
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF. van den Akker PC, et al. J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8. J Dermatol Sci. 2009. PMID: 19665875
BACKGROUND: The current classification of recessive dystrophic epidermolysis bullosa (RDEB) comprises two major subtypes: 'severe generalized RDEB' (RDEB-sev gen) with early-onset, extensive, generalized blistering and scarring, complete absence of typ …
BACKGROUND: The current classification of recessive dystrophic epidermolysis bullosa (RDEB) comprises two major subtype …
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y. Hovnanian A, et al. Am J Hum Genet. 1997 Sep;61(3):599-610. doi: 10.1086/515495. Am J Hum Genet. 1997. PMID: 9326325 Free PMC article.
We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not previously reported, in patients from 15 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 mutations …
We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not previously re …
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.
Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G. Chavanas S, et al. J Invest Dermatol. 1997 Jul;109(1):74-8. doi: 10.1111/1523-1747.ep12276614. J Invest Dermatol. 1997. PMID: 9204958 Free article.
We report a missplicing event affecting the expression of bullous pemphigoid antigen BP180 (type XVII collagen) in a patient with generalized atrophic benign epidermolysis bullosa (GABEB). The segregation of the mutated allele in the family is consistent with the pa …
We report a missplicing event affecting the expression of bullous pemphigoid antigen BP180 (type XVII collagen) in a patient with generalize …