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Inflammatory skin and bowel disease, neonatal, 1(NISBD1)

MedGen UID:: 482131
•Concept ID:: C3280501
•: Disease or Syndrome

Synonyms:	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1

Gene (location): Gene(s) directly associated with this condition or phenotype.	ADAM17 (2p25.1)

Monarch Initiative:	MONDO:0013693
OMIM®:	614328

Definition

Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. [from MONDO]

Clinical features

From HPO

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.

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Duodenitis

MedGen UID:: 4419
•Concept ID:: C0013298
•: Disease or Syndrome

Inflammation of the lining of the upper small intestine (duodenum).

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Bloody diarrhea

MedGen UID:: 56232
•Concept ID:: C0151594
•: Disease or Syndrome

Passage of many stools containing blood.

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Villous atrophy

MedGen UID:: 154306
•Concept ID:: C0554101
•: Finding

The enteric villi are atrophic or absent.

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Otitis externa

MedGen UID:: 10505
•Concept ID:: C0029878
•: Disease or Syndrome

Inflammation or infection of the external auditory canal (EAC), the auricle, or both.

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Blepharitis

MedGen UID:: 598
•Concept ID:: C0005741
•: Disease or Syndrome

Inflammation of the eyelids.

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Erythroderma

MedGen UID:: 3767
•Concept ID:: C0011606
•: Disease or Syndrome

An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.

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Increased circulating IgE level

MedGen UID:: 116018
•Concept ID:: C0236175
•: Finding

An abnormally increased overall level of immunoglobulin E in blood.

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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.

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Paronychia

MedGen UID:: 45334
•Concept ID:: C0030578
•: Disease or Syndrome

The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).

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Onychogryposis

MedGen UID:: 82671
•Concept ID:: C0263537
•: Disease or Syndrome

Nail that appears thick when viewed on end.

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Perianal erythema

MedGen UID:: 473350
•Concept ID:: C1112161
•: Finding

Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.

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Perioral erythema

MedGen UID:: 340873
•Concept ID:: C1855458
•: Finding

Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.

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Abnormality of the digestive system
Abnormality of the immune system
Abnormality of the integument
Ear malformation
- Otitis externa
Growth abnormality
- Failure to thrive

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

See all (4)

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

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.

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: 23711932 Free PMC Article

See all (14)

Diagnosis

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

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.

Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.

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

See all (9)

Therapy

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Neonatal inflammatory skin and bowel disease type 1 caused by a complex genetic defect and responsive to combined anti-tumour necrosis factor-α and interleukin-12/23 blockade.

Samuelov L, Sarig O, Malovitski K, Bergson S, Meijers O, Shouval DS, Sprecher E
Br J Dermatol 2022 Jun;186(6):1026-1029. Epub 2022 Apr 19 doi: 10.1111/bjd.20978. PMID: 34993966

Joint American Academy of Dermatology-National Psoriasis Foundation guidelines of care for the management and treatment of psoriasis in pediatric patients.

Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.

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

See all (9)

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: 29405832 Free PMC Article

Extraintestinal Manifestations of Pediatric Inflammatory Bowel Disease: Prevalence, Presentation, and Anti-TNF Treatment.

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

See all (8)

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.

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.

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

See all (9)

MedGen

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Inflammatory skin and bowel disease, neonatal, 1(NISBD1)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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