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Diffuse skin atrophy

MedGen UID:
870418
Concept ID:
C4024863
Disease or Syndrome
HPO: HP:0007488

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse skin atrophy

Conditions with this feature

Kindler syndrome
MedGen UID:
96060
Concept ID:
C0406557
Disease or Syndrome
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 decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, urethral stenosis, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.

Professional guidelines

PubMed

Nikolić Živanović M, Jurišić M, Marinković M, Grujičić D, Stanimirović A, Šćepanović V, Milićević M, Jovićević N, Videnović G, Pavlović V, Bogunović Stojičić S, Jovanović M, Jeremić J, Jović M, Ilić R, Stojičić M
Medicina (Kaunas) 2023 Sep 17;59(9) doi: 10.3390/medicina59091678. PMID: 37763798Free PMC Article
Carbonell D, Mahajan S, Chee SP, Sobolewska B, Agrawal R, Bülow T, Gupta V, Jones NP, Accorinti M, Agarwal M, Batchelor T, Biswas J, Cimino L, tenDam-van Loon NH, de-la-Torre A, Frenkel S, Pe'er J, Kramer M, Miserocchi E, Mochizuki M, Ness T, Rosenbaum JT, Sen HN, Simion M (VRL patient), Sitter H, Vasconcelos-Santos DV, Habot-Wilner Z, Coupland SE, Pulido JS, Smith J, Thorne JE, Zierhut M; Study Group for Vitreoretinal Lymphoma Diagnostics
Ocul Immunol Inflamm 2021 Apr 3;29(3):507-520. Epub 2021 May 19 doi: 10.1080/09273948.2021.1878233. PMID: 34009095
Farzaneh Asadi Kani Z, Nasiri S, Rafiei R, Younespour S
Acta Med Iran 2014;52(3):220-7. PMID: 24901726

Recent clinical studies

Etiology

Mai Y, Ouyang Y, Yu M, Qin Y, Girardi M, Saltzman WM, Cocco E, Zhao C, Yu L, Jia Y, Xiao L, Dou L, Deng W, Liu Y, Xie J, Deng Y
J Control Release 2022 Sep;349:354-366. Epub 2022 Jul 12 doi: 10.1016/j.jconrel.2022.07.006. PMID: 35817278
Zouboulis CC, Blume-Peytavi U, Kosmadaki M, Roó E, Vexiau-Robert D, Kerob D, Goldstein SR
Climacteric 2022 Oct;25(5):434-442. Epub 2022 Apr 4 doi: 10.1080/13697137.2022.2050206. PMID: 35377827
Provitera V, Iodice V, Manganelli F, Mozzillo S, Caporaso G, Stancanelli A, Borreca I, Esposito M, Dubbioso R, Iodice R, Vitale F, Koay S, Vichayanrat E, Valerio F, Santoro L, Nolano M
Neurology 2022 Mar 22;98(12):e1282-e1291. Epub 2022 Jan 11 doi: 10.1212/WNL.0000000000013300. PMID: 35017309Free PMC Article
Carbonell D, Mahajan S, Chee SP, Sobolewska B, Agrawal R, Bülow T, Gupta V, Jones NP, Accorinti M, Agarwal M, Batchelor T, Biswas J, Cimino L, tenDam-van Loon NH, de-la-Torre A, Frenkel S, Pe'er J, Kramer M, Miserocchi E, Mochizuki M, Ness T, Rosenbaum JT, Sen HN, Simion M (VRL patient), Sitter H, Vasconcelos-Santos DV, Habot-Wilner Z, Coupland SE, Pulido JS, Smith J, Thorne JE, Zierhut M; Study Group for Vitreoretinal Lymphoma Diagnostics
Ocul Immunol Inflamm 2021 Apr 3;29(3):507-520. Epub 2021 May 19 doi: 10.1080/09273948.2021.1878233. PMID: 34009095
Chung C, Forte AJ, Narayan D, Persing J
J Craniofac Surg 2006 Nov;17(6):1210-5. doi: 10.1097/01.scs.0000231619.95263.a2. PMID: 17119398

Diagnosis

Baykal C, Atci T
Australas J Dermatol 2023 Nov;64(4):463-475. Epub 2023 Jul 12 doi: 10.1111/ajd.14131. PMID: 37435706
Carbonell D, Mahajan S, Chee SP, Sobolewska B, Agrawal R, Bülow T, Gupta V, Jones NP, Accorinti M, Agarwal M, Batchelor T, Biswas J, Cimino L, tenDam-van Loon NH, de-la-Torre A, Frenkel S, Pe'er J, Kramer M, Miserocchi E, Mochizuki M, Ness T, Rosenbaum JT, Sen HN, Simion M (VRL patient), Sitter H, Vasconcelos-Santos DV, Habot-Wilner Z, Coupland SE, Pulido JS, Smith J, Thorne JE, Zierhut M; Study Group for Vitreoretinal Lymphoma Diagnostics
Ocul Immunol Inflamm 2021 Apr 3;29(3):507-520. Epub 2021 May 19 doi: 10.1080/09273948.2021.1878233. PMID: 34009095
Borowicz J, Shama L, Miller R
Skinmed 2011 Sep-Oct;9(5):316-8. PMID: 22165048
Farley-Loftus R, Mandal R, Latkowski JA
Dermatol Online J 2010 Nov 15;16(11):8. PMID: 21163159
Czirják L, Foeldvari I, Müller-Ladner U
Rheumatology (Oxford) 2008 Oct;47 Suppl 5:v44-5. doi: 10.1093/rheumatology/ken309. PMID: 18784142

Therapy

Mai Y, Ouyang Y, Yu M, Qin Y, Girardi M, Saltzman WM, Cocco E, Zhao C, Yu L, Jia Y, Xiao L, Dou L, Deng W, Liu Y, Xie J, Deng Y
J Control Release 2022 Sep;349:354-366. Epub 2022 Jul 12 doi: 10.1016/j.jconrel.2022.07.006. PMID: 35817278
Zouboulis CC, Blume-Peytavi U, Kosmadaki M, Roó E, Vexiau-Robert D, Kerob D, Goldstein SR
Climacteric 2022 Oct;25(5):434-442. Epub 2022 Apr 4 doi: 10.1080/13697137.2022.2050206. PMID: 35377827
Borowicz J, Shama L, Miller R
Skinmed 2011 Sep-Oct;9(5):316-8. PMID: 22165048
Farley-Loftus R, Mandal R, Latkowski JA
Dermatol Online J 2010 Nov 15;16(11):8. PMID: 21163159
Adachi H, Waza M, Katsuno M, Tanaka F, Doyu M, Sobue G
Neuropathol Appl Neurobiol 2007 Apr;33(2):135-51. doi: 10.1111/j.1365-2990.2007.00830.x. PMID: 17359355

Prognosis

Baykal C, Atci T
Australas J Dermatol 2023 Nov;64(4):463-475. Epub 2023 Jul 12 doi: 10.1111/ajd.14131. PMID: 37435706
Provitera V, Iodice V, Manganelli F, Mozzillo S, Caporaso G, Stancanelli A, Borreca I, Esposito M, Dubbioso R, Iodice R, Vitale F, Koay S, Vichayanrat E, Valerio F, Santoro L, Nolano M
Neurology 2022 Mar 22;98(12):e1282-e1291. Epub 2022 Jan 11 doi: 10.1212/WNL.0000000000013300. PMID: 35017309Free PMC Article
Bodemer C
Handb Clin Neurol 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. PMID: 23622185
Borowicz J, Shama L, Miller R
Skinmed 2011 Sep-Oct;9(5):316-8. PMID: 22165048
Czirják L, Foeldvari I, Müller-Ladner U
Rheumatology (Oxford) 2008 Oct;47 Suppl 5:v44-5. doi: 10.1093/rheumatology/ken309. PMID: 18784142

Clinical prediction guides

Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG, Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R, Poloniato A, Carrera P, Filippi M, Barera G
Ann Clin Transl Neurol 2023 Oct;10(10):1844-1853. Epub 2023 Aug 29 doi: 10.1002/acn3.51876. PMID: 37644805Free PMC Article
Sugiyama A, Nishigori C, Tsujimoto M, Togawa Y, Kuwabara S
Neurology 2022 Oct 4;99(14):618-624. Epub 2022 Aug 2 doi: 10.1212/WNL.0000000000201065. PMID: 35918170
Bodemer C
Handb Clin Neurol 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. PMID: 23622185
Farley-Loftus R, Mandal R, Latkowski JA
Dermatol Online J 2010 Nov 15;16(11):8. PMID: 21163159
Czirják L, Foeldvari I, Müller-Ladner U
Rheumatology (Oxford) 2008 Oct;47 Suppl 5:v44-5. doi: 10.1093/rheumatology/ken309. PMID: 18784142

Recent systematic reviews

Litaiem N, Rouai M, Slouma M, Rammeh S, Zeglaoui F
Clin Dermatol 2022 Nov-Dec;40(6):716-727. Epub 2022 Jul 28 doi: 10.1016/j.clindermatol.2022.07.009. PMID: 35907577
Mickeviciute GC, Valiuskyte M, Plattén M, Wszolek ZK, Andersen O, Danylaité Karrenbauer V, Ineichen BV, Granberg T
J Intern Med 2022 Mar;291(3):269-282. Epub 2021 Dec 22 doi: 10.1111/joim.13420. PMID: 34875121
Rouvroye MD, Zis P, Van Dam AM, Rozemuller AJM, Bouma G, Hadjivassiliou M
Nutrients 2020 Mar 20;12(3) doi: 10.3390/nu12030822. PMID: 32244870Free PMC Article

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