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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).
Autosomal recessive inheritance (Orphanet)
 
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

Anti-TNF treatment during pregnancy and birth outcomes: A population-based study from Denmark, Finland, and Sweden.
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
Joint American Academy of Dermatology-National Psoriasis Foundation guidelines of care for the management and treatment of psoriasis in pediatric patients.
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
Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.
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

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB
Genet Med 2022 Aug;24(8):1781-1788. Epub 2022 May 3 doi: 10.1016/j.gim.2022.04.001. PMID: 35503103
Hidradenitis Suppurativa in Sweden: A Registry-Based Cross-Sectional Study of 13,538 Patients.
Killasli H, Sartorius K, Emtestam L, Svensson Å
Dermatology 2020;236(4):281-288. Epub 2020 Feb 3 doi: 10.1159/000505545. PMID: 32015234
Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.
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
Monogenic autoinflammatory diseases: concept and clinical manifestations.
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
Opportunities for improving the health and nutrition of the human infant by probiotics.
Salminen S, Isolauri E
Nestle Nutr Workshop Ser Pediatr Program 2008;62:223-33; discussion 233-7. doi: 10.1159/000146350. PMID: 18626203

Diagnosis

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
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
A drug repositioning success: The repositioned therapeutic applications and mechanisms of action of thalidomide.
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
Hidradenitis Suppurativa in Sweden: A Registry-Based Cross-Sectional Study of 13,538 Patients.
Killasli H, Sartorius K, Emtestam L, Svensson Å
Dermatology 2020;236(4):281-288. Epub 2020 Feb 3 doi: 10.1159/000505545. PMID: 32015234
Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.
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
Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.
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

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB
Genet Med 2022 Aug;24(8):1781-1788. Epub 2022 May 3 doi: 10.1016/j.gim.2022.04.001. PMID: 35503103
Safety of anti-TNF agents in pregnancy.
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
A drug repositioning success: The repositioned therapeutic applications and mechanisms of action of thalidomide.
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
Joint American Academy of Dermatology-National Psoriasis Foundation guidelines of care for the management and treatment of psoriasis in pediatric patients.
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
Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.
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

Prognosis

Mast cell disorders: From infancy to maturity.
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
Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.
Zheng C, Huang Y, Hu W, Shi J, Ye Z, Qian X, Huang Z, Xue A, Wang Y, Lu J, Tang Z, Wu J, Wang L, Peng K, Zhou Y, Miao S, Sun H
Inflamm Bowel Dis 2019 Mar 14;25(4):756-766. doi: 10.1093/ibd/izy289. PMID: 30212871
Beyond sepsis: Staphylococcus epidermidis is an underestimated but significant contributor to neonatal morbidity.
Dong Y, Speer CP, Glaser K
Virulence 2018 Jan 1;9(1):621-633. doi: 10.1080/21505594.2017.1419117. PMID: 29405832Free PMC Article
Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.
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
Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.
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

Clinical prediction guides

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.
Koshu K, Muramatsu K, Maru T, Kurokawa Y, Mizobe Y, Yamagishi H, Matsubara D, Yokoyama K, Jimbo E, Kumagai H, Sanada Y, Sakuma Y, Fukushima N, Narita A, Yamagata T, Osaka H
Brain Dev 2023 Oct;45(9):517-522. Epub 2023 Jul 8 doi: 10.1016/j.braindev.2023.06.006. PMID: 37429811
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?
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
Demographic and clinical features of hidradenitis suppurativa in Korea.
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
Malignancies in patients with inflammatory bowel disease: a nationwide register study in Finland.
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
Vitamin D: in the evolution of human skin colour.
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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