TEXTBOOKS
Richard G, Ringpfeil F. Ichthyoses, erythrokeratodermas and related disorders. Capitolo 57. In: Bolognia, Schaffer & Cerroni (eds). Dermatologia. 4th ed., Elsevier Limited; 2017.
JOURNAL ARTICLES
Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF. Sindrome ittiotica generalizzata della pelle peeling a causa di mutazioni FLG2. J Invest Dermat. 2018 Aug 138(8):1881-1884. PubMed PMID: 29505760
Has C. Peeling Skin Disorders: Un paradigma per la desquamazione della pelle. J Invest Dermatol. 2018 Aug;138(8):1689-1691. PubMed PMID: 30032785
Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. Il deficit di Filaggrin 2 provoca un’anomala adesione cellula-cellula negli strati cellulari cornificati e causa la sindrome della pelle desquamata di tipo A. J Invest Dermat. 2018 Aug 138(8):1736-1743. PubMed PMID: 29758285
Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E. SAM syndrome is characterized by extensive phenotypic heterogeneity. Exp Dermatology. 2018 Jul 27(7):787-790. PubMed PMID: 29604126
Alfares A, Al-Khenaizan S, Al Mutairi F. Peeling skin syndrome associated with novel variant in FLG2 gene. Am J Med Genet. Parte A. 2017 Dec 173(12):3201-3204. PubMed PMID:28884927
Alkhalifah A, Chiaverini C, Del Giudice P, Supsrisunjai C, Hsu CK, Liu L, Charlesworth A, McGrath JA, Lacour JP. Sindrome di PLACK risultante da una nuova mutazione di inserzione omozigote in CAST. J Dermatol Sci. 2017 Nov 88(2):256-258. PubMed PMID: 28851602
Choe SJ, Kim BK, Lee S, Bak H, Lee JW, Ahn SK. Un caso di sindrome cutanea peeling ad insorgenza tardiva probabilmente innescata da irritazione. Ann Dermatol. 2017 Feb;29(1):119-120. doi: 10.5021/ad.2017.29.1.119. Epub 2017 Feb 3. PubMed PMID: 28223764; PubMed Central PMCID: PMC5318512
Fiete D, Mi Y, Beranek M, Baenziger NL, Baenziger JU. La sulfotransferasi glicano-specifica (R77W) GalNAc-4-ST1 putativamente responsabile della sindrome della pelle peeling ha proprietà normali coerenti con un polimorfismo di sequenza semplice. Glycobiology. 2017 05 01 27(5):450-456. PubMed PMID: 28204496
Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC. Mutazioni di perdita di funzione in SERPINB8 collegate all’ittiosi esfoliativa con alterata stabilità meccanica delle aderenze intercellulari. Am J Hum Genet. 2016 Aug 4 99(2):430-436. PubMed PMID: 27476651
Teye K, Suga Y, Numata S, Soejima M, Ishii N, Krol RP, Ohata C, Matsuda M, Honma M, Ishida-Yamamoto A, Hamada T, Koda Y, Hashimoto T. A founder deletion of corneodesmosin gene is prevailent in Japanese patients with peeling skin disease: Identificazione di 2 nuovi casi. J Dermatol Sci. 2016 May;82(2):134-7. doi: 10.1016/j.jdermsci.2016.01.012. Epub 2016 Jan 29. Nessun abstract disponibile. PMID: 26867961
Haber RM e Rose TH. Identificazione di una mutazione CAST in una coorte precedentemente diagnosticata erroneamente come avente Pachyonychia Congenita autosomica recessiva. Jama Dermatologia. 2015 Dec 01 151(12):1393-1394. PubMed PMID: 26650665
Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L. Perdita di desmoglein 1 associata a cheratoderma palmoplantare, dermatite e allergie multiple. Brit J Dermatol. 2015 Jan 172(1):257-61.PubMed PMID: 25041099
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O’Toole EA, Kelsell DP, Yang Y. Le mutazioni di perdita di funzione in CAST causano la desquamazione della pelle, leuconiachia, cheratosi acrali punteggiate, cheilite e cuscinetti delle nocche. Am J Hum Genet. 2015 Mar 5 96(3):440-7. PubMed PMID: 25683118
Muttardi K, Nitoiu D, Kelsell DP, O’Toole EA, Batta K. Acral peeling skin syndrome associated with a novel CSTA gene mutation. Clin Exp Dermatol. 2016 Jun;41(4):394-8. doi: 10.1111/ced.12777. Epub 2015 Dec 18. PubMed PMID: 26684698
Krunic AL, Stone KL, Simpson MA, McGrath JA. Sindrome della pelle peeling acrale risultante da una mutazione omozigote nonsense nel gene CSTA che codifica la cistatina A. Pediatr Dermatol. 2013 Sep-Oct;30(5):e87-8. doi: 10.1111/pde.12092. Epub 2013 Mar 28. PubMed PMID: 23534700
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Desmoglein 1 deficienza risultati in gravi dermatiti, allergie multiple e spreco metabolico. Nat Genet. 2013 Oct 45(10):1244-8. PubMed PMID: 23974871
Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Whole-exome sequencing in un singolo probando rivela una mutazione nel gene CHST8 nella sindrome autosomica recessiva della pelle peeling. Genomica. 2012 Apr;99(4):202-8.
Chang YY, van der Velden J, van der Wier G, Kramer D, Diercks GF, van Geel M, Coenraads PJ, Zeeuwen PL, Jonkman MF. Cheratolisi esfoliativa (disidrosi lamellosa sicca): un’entità distinta di peeling. Br J Dermatol. 2012 Nov;167(5):1076-84.
Telem DF, Israeli S, Sarig O, Sprecher E. Inflammatory peeling skin syndrome caused a novel mutation in CDSN. Arch Dermatol Res. 2012 Apr;304(3):251-5.
van der Velden JJ, Jonkman MF, McLean WH, Hamm H, Steijlen PM, van Steensel MA, van Geel M. A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. J Dermatol Sci. 2012 Jan;65(1):74-6.
Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP. Mutazioni in CSTA, che codifica la cistatina A, alla base dell’ittiosi esfoliativa e rivelano un ruolo per questo inibitore della proteasi nell’adesione cellula-cellula. Am J Hum Genet. 2011 Oct 07 89(4):564-71. PubMed PMID: 21944047
Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E. Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin. J Invest Dermatol. 2011 Mar;131(3):779-81.
Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, Kohlhase J, Bruckner-Tuderman L, Has C. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol. 2010 Jun;130(6):1741-6.Ayub M, Basit S, Jelani M, Ur Rehman F, Iqbal M, Yasinzai M, Ahmad W. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet. 2009 Oct 85(4):515-20. PubMed PMID: 19765682
Cassidy AJ, van Steensel MAM, Steijlen PM, et al. Una mutazione omozigote missenso in TGM5 abolisce l’attività della transglutaminasi epidermica 5 e causa la sindrome della pelle acrale. Am J Hum Genet. 2005;77:909-17.
Geyer AS, Ratajczak P, Pol-Rodriguez M, et al. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK. Dermatologia (Basilea, Svizzera). 2005 210(4):308-14. PubMed PMID: 15942217
Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nothen MM, Pras E. L’ipotricosi simplex del cuoio capelluto è associata a mutazioni nonsense in CDSN che codifica la corneodesmosina. Nat Genet. 2003:34(2):151-153.
Sardy M, Fay A. Karpati S, et al. Comel-Netherton syndrome and peeling skin syndrome type B: syndromes overlapping or one entity. Int J Dermatol. 2002;41:264-68.
INTERNET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Peeling skin syndrome-2 (PSS2). Numero di iscrizione; 609796: Data dell’ultima modifica; 11/04/2014. http://omim.org/entry/609796. Accessed December 29, 2019
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Sindrome della pelle sbucciata-1 (PSS1). Entry Number; 270300: Last Edit Date; 08/10/2018 http://omim.org/entry/270300 Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Sindrome della pelle peeling-3 (PSS3). Numero di entrata;616265: Last Edit Date 03/17/2015. http://omim.org/entry/616265. Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Sindrome della pelle peeling-4 (PSS4). Numero di entrata;607936: Data dell’ultima modifica 08/10/2018. http://omim.org/entry/607936. Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Sindrome della pelle squamosa-6 (PSS6). Entry Number:618084 Last Edit Date 08/13/2018. http://omim.org/entry/618084. Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Peeling skin syndrome-5 (PSS5) Entry Number:617115 Last Edit Date 09/13/2016. http://omim.org/entry/617115. Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Pelle desquamata in associazione con leuconichia, cheratosi acrali punteggiate, cheilite e cuscinetti delle nocche (PLACK). Entry Number:616295 Last Edit Date 05/22/2015. http://omim.org/entry/616295 . Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Eritroderma congenito associato a cheratoderma palmoplantare, ipotricosi e iper-IgE. Entry Number: 615508 Last Edit Date 11/22/2016 http://omim.org/entry/615508 Accessed December 29, 2019.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). La Johns Hopkins University. Sindrome di Netherton. Entry Number:256500 Last Edit Date 11/22/2016 http://omim.org/entry/256500 Accessed December 29, 2019.