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Quoted phrase not found in phrase index: "Localized dystrophic epidermolysis bullosa"
Page 1
Evaluation and treatment of the newborn with epidermolysis bullosa.
Gonzalez ME. Gonzalez ME. Semin Perinatol. 2013 Feb;37(1):32-9. doi: 10.1053/j.semperi.2012.11.004. Semin Perinatol. 2013. PMID: 23419761 Review.
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and variable degrees of extracutaneous involvement. The clinical spectrum ranges from localized skin disease to a life-threatening and dis …
Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and v …
Dystrophic epidermolysis bullosa.
Burkhart CG, Ruppert ES. Burkhart CG, et al. Clin Pediatr (Phila). 1981 Aug;20(8):493-6. doi: 10.1177/000992288102000801. Clin Pediatr (Phila). 1981. PMID: 7249491
The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant variants, the Cockayne-Touraine and Pasini forms. ...The Pasini variant often has generalized blistering commonly associated with mucosal invol …
The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant var …
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D, Jayashankar C, Srinivas M, Baraka Vishwanathan G, Reddy KR, Kubba A, Batrani M, Hiremagalore R. Gupta D, et al. PLoS One. 2023 Aug 9;18(8):e0289558. doi: 10.1371/journal.pone.0289558. eCollection 2023. PLoS One. 2023. PMID: 37556444 Free PMC article.
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. ...Molecular simulation studies in patients with missense mutations showed severe phenotype when they were localized in interrupted regions of GLY-X-Y repeats. C …
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. ...Molecular simulation stud …
Epidermolysis Bullosa in children: the central role of the pediatrician.
Marchili MR, Spina G, Roversi M, Mascolo C, Pentimalli E, Corbeddu M, Diociaiuti A, El Hachem M, Villani A. Marchili MR, et al. Orphanet J Rare Dis. 2022 Apr 4;17(1):147. doi: 10.1186/s13023-021-02144-1. Orphanet J Rare Dis. 2022. PMID: 35379269 Free PMC article.
Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. Another very …
Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous …
Epidermolysis bullosa care in Scandinavia.
Vahlquist A, Tasanen K. Vahlquist A, et al. Dermatol Clin. 2010 Apr;28(2):425-7, xv. doi: 10.1016/j.det.2010.02.018. Dermatol Clin. 2010. PMID: 20447519 Review.
The recessive forms of epidermolysis bullosa (EB) are common in Scandinavia, especially in the northern parts of Norway and Sweden. The daily care of EB in Scandinavia is organized around the patient via settings at the local hospital or health service. Howev …
The recessive forms of epidermolysis bullosa (EB) are common in Scandinavia, especially in the northern parts of Norway and Sw …
Epidermolysis bullosa dystrophica pretibialis - Clinical snapshot and management of a rare orphan disease.
Will LM, Reichrath J, Vogt T. Will LM, et al. J Dtsch Dermatol Ges. 2021 Jul;19(7):983-986. doi: 10.1111/ddg.14446. Epub 2021 May 5. J Dtsch Dermatol Ges. 2021. PMID: 33951274 Review.
If blistering occurs in childhood, the possibility of hereditary epidermolysis bullosa should be considered even if the symptoms are mild. Besides clinical and histological examination, molecular genetic screening is diagnostically relevant. For localized for …
If blistering occurs in childhood, the possibility of hereditary epidermolysis bullosa should be considered even if the sympto …
Pretibial epidermolysis bullosa.
Rizzo C, Anandasabapathy N, Walters RF, Rosenman K, Kamino H, Prystowsky S, Schaffer JV. Rizzo C, et al. Dermatol Online J. 2008 Oct 15;14(10):26. Dermatol Online J. 2008. PMID: 19061625
A 47-year-old Vietnamese woman presented with dystrophic fingernails and toenails that had been present since infancy. ...A biopsy specimen showed milia-like structures and dermal fibrosis. Pretibial epidermolysis bullosa is a rare variant of dystrophic …
A 47-year-old Vietnamese woman presented with dystrophic fingernails and toenails that had been present since infancy. ...A biopsy sp …
Epidermolysis bullosa: management complexities for paediatric patients.
Lynne V, Burns L, Handsaker J, Murdoch JM. Lynne V, et al. Br J Nurs. 2018 Jun 27;27(Sup12):S20-S25. doi: 10.12968/bjon.2018.27.Sup12.S20. Br J Nurs. 2018. PMID: 29944424
The genetic skin condition, epidermolysis bullosa (EB) causes the skin to be fragile and blister. ...METHOD: a prospective case series and product evaluation of the Allevyn Gentle Border Lite dressing range was conducted, with four paediatric patients diagnosed with …
The genetic skin condition, epidermolysis bullosa (EB) causes the skin to be fragile and blister. ...METHOD: a prospective cas …
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 …
60 results