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Inflammatory skin and bowel disease, neonatal, 2(NISBD2)

MedGen UID:
863567
•Concept ID:
C4015130
•
Disease or Syndrome
Synonym: NISBD2
 
Gene (location): EGFR (7p11.2)
 
Monarch Initiative: MONDO:0014481
OMIM®: 616069

Definition

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. [from MONDO]

Clinical features

From HPO
Coarctation of aorta
MedGen UID:
1617
•Concept ID:
C0003492
•
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Vomiting
MedGen UID:
12124
•Concept ID:
C0042963
•
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
See: Feature record | Search on this feature
Secretory diarrhea
MedGen UID:
75635
•Concept ID:
C0267557
•
Disease or Syndrome
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
See: Feature record | Search on this feature
Recurrent pneumonia
MedGen UID:
195802
•Concept ID:
C0694550
•
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
See: Feature record | Search on this feature
Recurrent bronchiolitis
MedGen UID:
863573
•Concept ID:
C4015136
•
Finding
An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.
See: Feature record | Search on this feature
Increased circulating IgE level
MedGen UID:
116018
•Concept ID:
C0236175
•
Finding
An abnormally increased overall level of immunoglobulin E in blood.
See: Feature record | Search on this feature
Pustule
MedGen UID:
488804
•Concept ID:
C0241157
•
Finding
A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
See: Feature record | Search on this feature
Dehydration
MedGen UID:
8273
•Concept ID:
C0011175
•
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
See: Feature record | Search on this feature
Epidermal acanthosis
MedGen UID:
65136
•Concept ID:
C0221270
•
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
See: Feature record | Search on this feature
Papule
MedGen UID:
507324
•Concept ID:
C0332563
•
Finding
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
See: Feature record | Search on this feature
Long eyelashes
MedGen UID:
342955
•Concept ID:
C1853738
•
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
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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
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

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
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
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
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

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
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
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
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

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
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
Claims for disease-modifying therapy by Alberta non-insured health benefits clients.
Barnabe C, Healy B, Portolesi A, Kaplan GG, Hemmelgarn B, Weaselhead C
BMC Health Serv Res 2016 Aug 24;16(1):430. doi: 10.1186/s12913-016-1685-y. PMID: 27557840Free PMC Article
Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.
Magnani A, Brosselin P, Beauté J, de Vergnes N, Mouy R, Debré M, Suarez F, Hermine O, Lortholary O, Blanche S, Fischer A, Mahlaoui N
J Allergy Clin Immunol 2014 Sep;134(3):655-662.e8. Epub 2014 Jun 27 doi: 10.1016/j.jaci.2014.04.014. PMID: 24985400

Prognosis

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
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
Claims for disease-modifying therapy by Alberta non-insured health benefits clients.
Barnabe C, Healy B, Portolesi A, Kaplan GG, Hemmelgarn B, Weaselhead C
BMC Health Serv Res 2016 Aug 24;16(1):430. doi: 10.1186/s12913-016-1685-y. PMID: 27557840Free PMC Article
Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.
Magnani A, Brosselin P, Beauté J, de Vergnes N, Mouy R, Debré M, Suarez F, Hermine O, Lortholary O, Blanche S, Fischer A, Mahlaoui N
J Allergy Clin Immunol 2014 Sep;134(3):655-662.e8. Epub 2014 Jun 27 doi: 10.1016/j.jaci.2014.04.014. PMID: 24985400
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
Recurrent wheezing is associated with intestinal protozoan infections in Warao Amerindian children in Venezuela: a cross-sectional survey.
Overeem MM, Verhagen LM, Hermans PW, del Nogal B, Sánchez AM, Acevedo NM, Murga RR, Roelfsema J, Pinelli E, de Waard JH
BMC Infect Dis 2014 May 29;14:293. doi: 10.1186/1471-2334-14-293. PMID: 24885094Free PMC Article
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

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