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Ectodermal dysplasia with hair-tooth-nail-sweating defect

MedGen UID:
590621
Concept ID:
C0406701
Congenital Abnormality
Synonym: Hypohidrotic ectodermal dysplasia
SNOMED CT: Ectodermal dysplasia with hair-tooth-nail-sweating defect (239006001); Hypohidrotic ectodermal dysplasia (239006001)

Professional guidelines

PubMed

Thavikulwat AT, Edward DP, AlDarrab A, Vajaranant TS
J Neurosci Res 2019 Jan;97(1):57-69. Epub 2018 Apr 1 doi: 10.1002/jnr.24241. PMID: 29607552
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA
J Pediatr 2016 Nov;178:24-33.e2. Epub 2016 Sep 19 doi: 10.1016/j.jpeds.2016.07.054. PMID: 27659028Free PMC Article

Recent clinical studies

Therapy

Moreno-Casas G, Pereira-González A, Rodríguez-Nevado I, Narváez-Moreno B, Chaves-Álvarez A, Peral-Rubio F
Exp Dermatol 2023 May;32(5):694-698. Epub 2023 Feb 26 doi: 10.1111/exd.14764. PMID: 36779680
Silverberg N
Clin Dermatol 2020 Jul-Aug;38(4):462-466. Epub 2020 Mar 24 doi: 10.1016/j.clindermatol.2020.03.006. PMID: 32972604
Rinaldi G, Batul Syed S
Clin Exp Dermatol 2020 Mar;45(2):141-146. Epub 2019 Sep 16 doi: 10.1111/ced.14078. PMID: 31529496
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Winter PR, Itinteang T, Leadbitter P, Tan ST
Acta Paediatr 2016 Feb;105(2):145-53. Epub 2015 Nov 27 doi: 10.1111/apa.13242. PMID: 26469095

Prognosis

Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G
Genes (Basel) 2023 Nov 22;14(12) doi: 10.3390/genes14122111. PMID: 38136934Free PMC Article
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
Philip N, Sigaudy S
J Med Genet 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. PMID: 9541110Free PMC Article

Clinical prediction guides

Raymundo JR, Zhang H, Smaldone G, Zhu W, Daly KE, Glennon BJ, Pecoraro G, Salvatore M, Devine WA, Lo CW, Vitagliano L, Marneros AG
J Clin Invest 2023 Dec 19;134(4) doi: 10.1172/JCI174138. PMID: 38113115Free PMC Article
Novelli F, Ganini C, Melino G, Nucci C, Han Y, Shi Y, Wang Y, Candi E
Biochem Biophys Res Commun 2022 Jun 25;610:15-22. Epub 2022 Apr 9 doi: 10.1016/j.bbrc.2022.04.022. PMID: 35430447
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A
Dermatol Clin 2018 Oct;36(4):421-430. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.009. PMID: 30201151
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768Free PMC Article
Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M
World J Gastroenterol 2011 Oct 7;17(37):4247-50. doi: 10.3748/wjg.v17.i37.4247. PMID: 22072859Free PMC Article

Recent systematic reviews

Huang S, Yang Y, Ouyang Z, Guo X, Zhan Z, Liu X, Chen Z, Xu J, Yu M
Eur J Dermatol 2022 Sep 1;32(5):589-596. doi: 10.1684/ejd.2022.4317. PMID: 36468718
Rahman RK, Majmundar N, Ghani H, San A, Koirala M, Gajjar AA, Pappert A, Mazzola CA
Neurosurg Focus 2022 May;52(5):E8. doi: 10.3171/2022.2.FOCUS21791. PMID: 35535823
Pellino G, Gencarelli J, Bertelli S, Russo A, Fiumana E, Faggioli R
Epilepsy Behav 2020 Jun;107:107061. Epub 2020 Apr 6 doi: 10.1016/j.yebeh.2020.107061. PMID: 32272368
Kotsiomiti E, Kassa D, Kapari D
Eur J Prosthodont Restor Dent 2007 Jun;15(2):55-60. PMID: 17645065

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