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Page 1
Kindler Syndrome.
Youssefian L, Vahidnezhad H, Uitto J. Youssefian L, et al. 2016 Mar 3 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Mar 3 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26937547 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually d …
CLINICAL CHARACTERISTICS: Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragilit …
Kindler syndrome.
Lai-Cheong JE, McGrath JA. Lai-Cheong JE, et al. Dermatol Clin. 2010 Jan;28(1):119-24. doi: 10.1016/j.det.2009.10.013. Dermatol Clin. 2010. PMID: 19945624 Review.
Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). ...This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses pat …
Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype …
Kindler syndrome.
Ashton GH. Ashton GH. Clin Exp Dermatol. 2004 Mar;29(2):116-21. doi: 10.1111/j.1365-2230.2004.01465.x. Clin Exp Dermatol. 2004. PMID: 14987263 Review.
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. ...This article reviews the clinical features as well as the molecular and cellular pathology of Ki …
Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosens …
Orofacial Anomalies in Kindler Epidermolysis Bullosa.
Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C. Krämer S, et al. JAMA Dermatol. 2024 May 1;160(5):544-549. doi: 10.1001/jamadermatol.2024.0065. JAMA Dermatol. 2024. PMID: 38506824
Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported. ...CONCLUSIONS AND RELEVANCE: These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermol …
Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported. . …
Kindler Syndrome.
Mendiratta V, Malik M. Mendiratta V, et al. Indian Pediatr. 2018 Jan 15;55(1):85. Indian Pediatr. 2018. PMID: 29396956 No abstract available.
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA. Lai-Cheong JE, et al. Br J Dermatol. 2009 Feb;160(2):233-42. doi: 10.1111/j.1365-2133.2008.08976.x. Epub 2008 Dec 11. Br J Dermatol. 2009. PMID: 19120339 Review.
Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities. ...In this report, we review the clinical, cellular and molecular pathology of Kindler syndrome and discuss the role of fe …
Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abno …
Kindler syndrome: a rare case report from Syria.
Edrees S, Jarkas N, Hraib M, Al-Yousef K, Baddour R. Edrees S, et al. Ann Med Surg (Lond). 2023 Apr 6;85(5):2077-2080. doi: 10.1097/MS9.0000000000000503. eCollection 2023 May. Ann Med Surg (Lond). 2023. PMID: 37229095 Free PMC article.
Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur" lanugo hair". This is a case of a 13-year-old Syrian child, who presented with difuse fine face hai …
Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never r …
Dermoscopy of Kindler Syndrome.
Neema S, Sinha P, Sandhu S, Mukherjee S, Radhakrishnan S. Neema S, et al. Dermatol Pract Concept. 2020 Apr 3;10(2):e2020034. doi: 10.5826/dpc.1002a34. eCollection 2020. Dermatol Pract Concept. 2020. PMID: 32363096 Free PMC article. No abstract available.
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Has C, et al. Hum Mutat. 2011 Nov;32(11):1204-12. doi: 10.1002/humu.21576. Epub 2011 Sep 20. Hum Mutat. 2011. PMID: 21936020 Review.
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive po …
Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS) …
1,801 results