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Neonatal inflammatory skin and bowel disease

MedGen UID:
1648296
Concept ID:
C4751120
Disease or Syndrome
Synonyms: inflammatory skin and bowel disease, neonatal; neonatal inflammatory skin and bowel disease
SNOMED CT: Neonatal inflammatory skin and bowel disease (773662009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0017411
OMIM® Phenotypic series: PS614328
Orphanet: ORPHA294023

Definition

A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterised by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhoea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal inflammatory skin and bowel disease

Professional guidelines

PubMed

Bröms G, Kieler H, Ekbom A, Gissler M, Hellgren K, Lahesmaa-Korpinen AM, Pedersen L, Schmitt-Egenolf M, Sørensen HT, Granath F
Pharmacoepidemiol Drug Saf 2020 Mar;29(3):316-327. Epub 2020 Feb 4 doi: 10.1002/pds.4930. PMID: 32020767
Menter A, Cordoro KM, Davis DMR, Kroshinsky D, Paller AS, Armstrong AW, Connor C, Elewski BE, Gelfand JM, Gordon KB, Gottlieb AB, Kaplan DH, Kavanaugh A, Kiselica M, Kivelevitch D, Korman NJ, Lebwohl M, Leonardi CL, Lichten J, Lim HW, Mehta NN, Parra SL, Pathy AL, Farley Prater EA, Rupani RN, Siegel M, Stoff B, Strober BE, Wong EB, Wu JJ, Hariharan V, Elmets CA
J Am Acad Dermatol 2020 Jan;82(1):161-201. Epub 2019 Nov 5 doi: 10.1016/j.jaad.2019.08.049. PMID: 31703821
Greuter T, Bertoldo F, Rechner R, Straumann A, Biedermann L, Zeitz J, Misselwitz B, Scharl M, Rogler G, Safroneeva E, Ali RAR, Braegger C, Heyland K, Mueller P, Nydegger A, Petit LM, Schibli S, Furlano RI, Spalinger J, Schäppi M, Zamora S, Froehlich F, Herzog D, Schoepfer AM, Vavricka SR; Swiss IBD Cohort Study Group
J Pediatr Gastroenterol Nutr 2017 Aug;65(2):200-206. doi: 10.1097/MPG.0000000000001455. PMID: 27801751

Recent clinical studies

Etiology

Greuter T, Bertoldo F, Rechner R, Straumann A, Biedermann L, Zeitz J, Misselwitz B, Scharl M, Rogler G, Safroneeva E, Ali RAR, Braegger C, Heyland K, Mueller P, Nydegger A, Petit LM, Schibli S, Furlano RI, Spalinger J, Schäppi M, Zamora S, Froehlich F, Herzog D, Schoepfer AM, Vavricka SR; Swiss IBD Cohort Study Group
J Pediatr Gastroenterol Nutr 2017 Aug;65(2):200-206. doi: 10.1097/MPG.0000000000001455. PMID: 27801751
Jussila A, Virta LJ, Pukkala E, Färkkilä MA
Scand J Gastroenterol 2013 Dec;48(12):1405-13. Epub 2013 Oct 16 doi: 10.3109/00365521.2013.846402. PMID: 24131389
Ran-Ressler RR, Glahn RP, Bae S, Brenna JT
Nestle Nutr Inst Workshop Ser 2013;77:133-43. Epub 2013 Aug 29 doi: 10.1159/000351396. PMID: 24107503Free PMC Article
Almeida de Jesus A, Goldbach-Mansky R
Clin Immunol 2013 Jun;147(3):155-74. Epub 2013 Apr 9 doi: 10.1016/j.clim.2013.03.016. PMID: 23711932Free PMC Article
Salminen S, Isolauri E
Nestle Nutr Workshop Ser Pediatr Program 2008;62:223-33; discussion 233-7. doi: 10.1159/000146350. PMID: 18626203

Diagnosis

Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL
J Clin Immunol 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. PMID: 38231408Free PMC Article
Esfandiari N, Vandyke S, Porter HJ, Shea K, Morley K, Greene L
Pediatr Dermatol 2024 Mar-Apr;41(2):298-301. Epub 2023 Oct 8 doi: 10.1111/pde.15432. PMID: 37807602
Amare GG, Meharie BG, Belayneh YM
J Oncol Pharm Pract 2021 Apr;27(3):673-678. Epub 2020 Nov 29 doi: 10.1177/1078155220975825. PMID: 33249990
Greuter T, Bertoldo F, Rechner R, Straumann A, Biedermann L, Zeitz J, Misselwitz B, Scharl M, Rogler G, Safroneeva E, Ali RAR, Braegger C, Heyland K, Mueller P, Nydegger A, Petit LM, Schibli S, Furlano RI, Spalinger J, Schäppi M, Zamora S, Froehlich F, Herzog D, Schoepfer AM, Vavricka SR; Swiss IBD Cohort Study Group
J Pediatr Gastroenterol Nutr 2017 Aug;65(2):200-206. doi: 10.1097/MPG.0000000000001455. PMID: 27801751
Jussila A, Virta LJ, Pukkala E, Färkkilä MA
Scand J Gastroenterol 2013 Dec;48(12):1405-13. Epub 2013 Oct 16 doi: 10.3109/00365521.2013.846402. PMID: 24131389

Therapy

De Felice KM, Kane S
J Allergy Clin Immunol 2021 Sep;148(3):661-667. doi: 10.1016/j.jaci.2021.07.005. PMID: 34489011
Amare GG, Meharie BG, Belayneh YM
J Oncol Pharm Pract 2021 Apr;27(3):673-678. Epub 2020 Nov 29 doi: 10.1177/1078155220975825. PMID: 33249990
Menter A, Cordoro KM, Davis DMR, Kroshinsky D, Paller AS, Armstrong AW, Connor C, Elewski BE, Gelfand JM, Gordon KB, Gottlieb AB, Kaplan DH, Kavanaugh A, Kiselica M, Kivelevitch D, Korman NJ, Lebwohl M, Leonardi CL, Lichten J, Lim HW, Mehta NN, Parra SL, Pathy AL, Farley Prater EA, Rupani RN, Siegel M, Stoff B, Strober BE, Wong EB, Wu JJ, Hariharan V, Elmets CA
J Am Acad Dermatol 2020 Jan;82(1):161-201. Epub 2019 Nov 5 doi: 10.1016/j.jaad.2019.08.049. PMID: 31703821
Greuter T, Bertoldo F, Rechner R, Straumann A, Biedermann L, Zeitz J, Misselwitz B, Scharl M, Rogler G, Safroneeva E, Ali RAR, Braegger C, Heyland K, Mueller P, Nydegger A, Petit LM, Schibli S, Furlano RI, Spalinger J, Schäppi M, Zamora S, Froehlich F, Herzog D, Schoepfer AM, Vavricka SR; Swiss IBD Cohort Study Group
J Pediatr Gastroenterol Nutr 2017 Aug;65(2):200-206. doi: 10.1097/MPG.0000000000001455. PMID: 27801751
Salminen S, Isolauri E
Nestle Nutr Workshop Ser Pediatr Program 2008;62:223-33; discussion 233-7. doi: 10.1159/000146350. PMID: 18626203

Prognosis

Wilcock A, Bahri R, Bulfone-Paus S, Arkwright PD
Allergy 2019 Jan;74(1):53-63. Epub 2018 Nov 28 doi: 10.1111/all.13657. PMID: 30390314
Dong Y, Speer CP, Glaser K
Virulence 2018 Jan 1;9(1):621-633. doi: 10.1080/21505594.2017.1419117. PMID: 29405832Free PMC Article
Greuter T, Bertoldo F, Rechner R, Straumann A, Biedermann L, Zeitz J, Misselwitz B, Scharl M, Rogler G, Safroneeva E, Ali RAR, Braegger C, Heyland K, Mueller P, Nydegger A, Petit LM, Schibli S, Furlano RI, Spalinger J, Schäppi M, Zamora S, Froehlich F, Herzog D, Schoepfer AM, Vavricka SR; Swiss IBD Cohort Study Group
J Pediatr Gastroenterol Nutr 2017 Aug;65(2):200-206. doi: 10.1097/MPG.0000000000001455. PMID: 27801751
Jussila A, Virta LJ, Pukkala E, Färkkilä MA
Scand J Gastroenterol 2013 Dec;48(12):1405-13. Epub 2013 Oct 16 doi: 10.3109/00365521.2013.846402. PMID: 24131389
Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP
N Engl J Med 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721. PMID: 22010916

Clinical prediction guides

Kosukcu C, Taskiran EZ, Batu ED, Sag E, Bilginer Y, Alikasifoglu M, Ozen S
Rheumatology (Oxford) 2021 Feb 1;60(2):607-616. doi: 10.1093/rheumatology/keaa165. PMID: 32447396
Neves JF, Doffinger R, Barcena-Morales G, Martins C, Papapietro O, Plagnol V, Curtis J, Martins M, Kumararatne D, Cordeiro AI, Neves C, Borrego LM, Katan M, Nejentsev S
Front Immunol 2018;9:2863. Epub 2018 Dec 14 doi: 10.3389/fimmu.2018.02863. PMID: 30619256Free PMC Article
Yang JH, Moon J, Kye YC, Kim KJ, Kim MN, Ro YS, Park MY, Ahn HH, Lee MW, Lee WJ, Lee JH, Lee JB, Jang MS, Choi YS, Choi YW, Suh DH; Korean Society for Acne Research
J Dermatol 2018 Dec;45(12):1389-1395. Epub 2018 Oct 8 doi: 10.1111/1346-8138.14656. PMID: 30294846
Jussila A, Virta LJ, Pukkala E, Färkkilä MA
Scand J Gastroenterol 2013 Dec;48(12):1405-13. Epub 2013 Oct 16 doi: 10.3109/00365521.2013.846402. PMID: 24131389
Yuen AW, Jablonski NG
Med Hypotheses 2010 Jan;74(1):39-44. Epub 2009 Aug 29 doi: 10.1016/j.mehy.2009.08.007. PMID: 19717244

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