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Quoted phrase not found in phrase index: "Junctional epidermolysis bullosa gravis of Herlitz"
Page 1
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH. Bardhan A, et al. Nat Rev Dis Primers. 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. Nat Rev Dis Primers. 2020. PMID: 32973163 Review.
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous fragility and blister formation, inducible by often minimal trauma. ...Over 30 subtypes are recognized, grouped into four major categories, base …
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses characterized by mucocutaneous frag …
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC. Hon KL, et al. Curr Pediatr Rev. 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. Curr Pediatr Rev. 2022. PMID: 34036913 Review.
We performed a review of existing literature in the English language on EB via PubMed Clinical Queries, using key words such as "epidermolysis bullosa", "congenital" and "children". We reviewed EB based on the following subheadings: epidemiology, diagnosis, therapy, …
We performed a review of existing literature in the English language on EB via PubMed Clinical Queries, using key words such as "epidermo …
Laryngo-onycho-cutaneous syndrome.
Cohn HI, Murrell DF. Cohn HI, et al. Dermatol Clin. 2010 Jan;28(1):89-92. doi: 10.1016/j.det.2009.10.010. Dermatol Clin. 2010. PMID: 19945620 Review.
Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique mutation affecting the N …
Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based o …
Epidermolysis bullosa and cancer.
Mallipeddi R. Mallipeddi R. Clin Exp Dermatol. 2002 Nov;27(8):616-23. doi: 10.1046/j.1365-2230.2002.01130.x. Clin Exp Dermatol. 2002. PMID: 12472531 Review.
Epidermolysis bullosa (EB) encompasses a group of inherited blistering skin disorders classified into three main subtypes of simplex, junctional and dystrophic. ...The reason why dystrophic EB patients readily develop SCC with such a poor prognosis rem …
Epidermolysis bullosa (EB) encompasses a group of inherited blistering skin disorders classified into three main subtypes of s …
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). Further reports of patients with CAS and EB have been made with wide clinical heterogeneity among the …
BACKGROUND/OBJECTIVES: Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnormalities, and …
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making.
Yang CS, Kroshinksy D, Cummings BM. Yang CS, et al. Am J Clin Dermatol. 2014 Oct;15(5):445-50. doi: 10.1007/s40257-014-0091-7. Am J Clin Dermatol. 2014. PMID: 25117154 Review.
Junctional epidermolysis bullosa (JEB), generalized severe (previously called JEB, Herlitz-type) has an extremely poor prognosis, with a mean age of death at 5 months old and most dead before age 3 years. ...We review the literature as well as discuss …
Junctional epidermolysis bullosa (JEB), generalized severe (previously called JEB, Herlitz-type) has an extremely poor …
Collagen XVII Processing and Blistering Skin Diseases.
Nishie W. Nishie W. Acta Derm Venereol. 2020 Feb 12;100(5):adv00054. doi: 10.2340/00015555-3399. Acta Derm Venereol. 2020. PMID: 32039455 Free PMC article. Review.
In addition, loss-of-function mutations in the COL17A1 gene induce a subtype of junctional epidermolysis bullosa. The extracellular domain of COL17 can be physiologically cleaved from the cell surface by ADAM family proteins in a process known as ectodomain s …
In addition, loss-of-function mutations in the COL17A1 gene induce a subtype of junctional epidermolysis bullosa. The e …
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I, Tan EC, Gondokaryono SP, Koh MJ, Dwiyana RF, Rahardja JI, Yogya Y, Rafi'ee K, Suwarsa O. Arline Diana I, et al. Australas J Dermatol. 2023 Nov;64(4):e327-e332. doi: 10.1111/ajd.14121. Epub 2023 Jul 14. Australas J Dermatol. 2023. PMID: 37452458
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. ...This demonstrated the importance of early genetic testing for accurate diagnosis, prognostication, management and genetic co …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogen …
Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review.
Polizzi A, Santonocito S, Patini R, Quinzi V, Mummolo S, Leonardi R, Bianchi A, Isola G. Polizzi A, et al. Biomed Res Int. 2022 May 31;2022:6493156. doi: 10.1155/2022/6493156. eCollection 2022. Biomed Res Int. 2022. PMID: 35686231 Free PMC article. Review.
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. ...From the sample results, it can be concluded that the clinical manifestation of EB …
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanica …
Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa.
Trefzer L, Schwieger-Briel A, Nyström A, Conradt G, Pohl M, Miernik A, Has C. Trefzer L, et al. JAMA Dermatol. 2022 Sep 1;158(9):1057-1062. doi: 10.1001/jamadermatol.2022.2885. JAMA Dermatol. 2022. PMID: 35921091 Free PMC article.
IMPORTANCE: Kidney-urinary tract (KUT) manifestations cause substantial morbidity in patients with junctional epidermolysis bullosa (JEB), but the spectrum of disease severity and the clinical course have been poorly characterized. OBJECTIVE: To examin …
IMPORTANCE: Kidney-urinary tract (KUT) manifestations cause substantial morbidity in patients with junctional epidermolysis …
168 results