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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

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
1985 STD Treatment Guidelines.
Centers for Disease Control (CDC)
MMWR Suppl 1985 Oct 18;34(4):75S-108S. PMID: 2999577

Recent clinical studies

Etiology

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.
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
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
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
Branched-chain fatty acids in the neonatal gut and estimated dietary intake in infancy and adulthood.
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
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 case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.
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
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
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
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

Therapy

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
Branched-chain fatty acids in the neonatal gut and estimated dietary intake in infancy and adulthood.
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

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
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
Inflammatory skin and bowel disease linked to ADAM17 deletion.
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

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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