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Inflammatory abnormality of the skin

MedGen UID:
849741
Concept ID:
C3875321
Disease or Syndrome
Synonym: Dermatitis
SNOMED CT: Inflammatory dermatosis (703938007)
 
HPO: HP:0011123
Monarch Initiative: MONDO:0002406

Definition

The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inflammatory abnormality of the skin

Conditions with this feature

DK1-congenital disorder of glycosylation
MedGen UID:
332072
Concept ID:
C1835849
Disease or Syndrome
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MedGen UID:
354935
Concept ID:
C1863236
Disease or Syndrome
Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development, viability, and function. The clinical phenotypic spectrum includes: Severe combined immunodeficiency disease (SCID), often diagnosed by age six months and usually by age 12 months; Less severe "delayed" onset combined immune deficiency (CID), usually diagnosed between age one and ten years; "Late/adult onset" CID, diagnosed in the second to fourth decades; Benign "partial ADA deficiency" (very low or absent ADA activity in erythrocytes but greater ADA activity in nucleated cells), which is compatible with normal immune function. Infants with typical early-onset ADA-deficient SCID have failure to thrive and opportunistic infections associated with marked depletion of T, B, and NK lymphocytes, and an absence of both humoral and cellular immune function. If immune function is not restored, children with ADA-deficient SCID rarely survive beyond age one to two years. Infections in delayed- and late-onset types (commonly, recurrent otitis, sinusitis, and upper respiratory) may initially be less severe than those in individuals with ADA-deficient SCID; however, by the time of diagnosis these individuals often have chronic pulmonary insufficiency and may have autoimmune phenomena (cytopenias, anti-thyroid antibodies), allergies, and elevated serum concentration of IgE. The longer the disorder goes unrecognized, the more immune function deteriorates and the more likely are chronic sequelae of recurrent infection.
Majeed syndrome
MedGen UID:
351273
Concept ID:
C1864997
Disease or Syndrome
Majeed syndrome (MJDS) is an autosomal recessive pediatric multisystem autoinflammatory disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia; some patients may also develop neutrophilic dermatosis. Additional features may include fever, failure to thrive, and neutropenia. Laboratory studies show elevated inflammatory markers consistent with activation of the proinflammatory IL1 (147760) pathway (summary by Ferguson and El-Shanti, 2021). Genetic Heterogeneity of Chronic Recurrent Multifocal Osteomyelitis See also CRMO2 (612852), caused by mutation in the IL1RN gene (147679) on chromosome 2q14; and CRMO3 (259680), caused by mutation in the IL1R1 gene (147810) on chromosome 2q12.
Branched-chain keto acid dehydrogenase kinase deficiency
MedGen UID:
766992
Concept ID:
C3554078
Disease or Syndrome
Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).
Yao syndrome
MedGen UID:
934587
Concept ID:
C4310620
Disease or Syndrome
Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (and Shen, 2017).
VEXAS syndrome
MedGen UID:
1765785
Concept ID:
C5435753
Disease or Syndrome
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020).

Professional guidelines

PubMed

Latimer KM, Gunther A, Kopec M
Am Fam Physician 2023 Jul;108(1):58-69. PMID: 37440739
Thawabteh AM, Jibreen A, Karaman D, Thawabteh A, Karaman R
Molecules 2023 Jun 18;28(12) doi: 10.3390/molecules28124839. PMID: 37375394Free PMC Article
Chovatiya R, Paller AS
J Allergy Clin Immunol 2021 Oct;148(4):927-940. Epub 2021 Aug 24 doi: 10.1016/j.jaci.2021.08.009. PMID: 34437922Free PMC Article

Recent clinical studies

Etiology

Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508
Yamanaka K, Yamamoto O, Honda T
J Dermatol 2021 Jun;48(6):722-731. Epub 2021 Apr 22 doi: 10.1111/1346-8138.15913. PMID: 33886133
Steere AC, Strle F, Wormser GP, Hu LT, Branda JA, Hovius JW, Li X, Mead PS
Nat Rev Dis Primers 2016 Dec 15;2:16090. doi: 10.1038/nrdp.2016.90. PMID: 27976670Free PMC Article
Ozen S, Pistorio A, Iusan SM, Bakkaloglu A, Herlin T, Brik R, Buoncompagni A, Lazar C, Bilge I, Uziel Y, Rigante D, Cantarini L, Hilario MO, Silva CA, Alegria M, Norambuena X, Belot A, Berkun Y, Estrella AI, Olivieri AN, Alpigiani MG, Rumba I, Sztajnbok F, Tambic-Bukovac L, Breda L, Al-Mayouf S, Mihaylova D, Chasnyk V, Sengler C, Klein-Gitelman M, Djeddi D, Nuno L, Pruunsild C, Brunner J, Kondi A, Pagava K, Pederzoli S, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2010 May;69(5):798-806. doi: 10.1136/ard.2009.116657. PMID: 20413568

Diagnosis

Gade A, Hwang JR, Hoegler K, Khan S, Khachemoune A
Altern Ther Health Med 2023 May;29(4):246-252. PMID: 34264859
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Bascom R, Dhingra R, Francomano CA
Am J Med Genet C Semin Med Genet 2021 Dec;187(4):533-548. Epub 2021 Nov 22 doi: 10.1002/ajmg.c.31953. PMID: 34811894
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508
van der Kooi AJ, de Visser M
Handb Clin Neurol 2014;119:495-512. doi: 10.1016/B978-0-7020-4086-3.00032-1. PMID: 24365315

Therapy

Gade A, Hwang JR, Hoegler K, Khan S, Khachemoune A
Altern Ther Health Med 2023 May;29(4):246-252. PMID: 34264859
Chovatiya R, Paller AS
J Allergy Clin Immunol 2021 Oct;148(4):927-940. Epub 2021 Aug 24 doi: 10.1016/j.jaci.2021.08.009. PMID: 34437922Free PMC Article
Landis MN
Am J Clin Dermatol 2020 Jun;21(3):411-419. doi: 10.1007/s40257-020-00508-0. PMID: 32107726
O'Shea KM, Aceves SS, Dellon ES, Gupta SK, Spergel JM, Furuta GT, Rothenberg ME
Gastroenterology 2018 Jan;154(2):333-345. Epub 2017 Jul 27 doi: 10.1053/j.gastro.2017.06.065. PMID: 28757265Free PMC Article
Badgwell C, Rosen T
J Am Acad Dermatol 2007 Jan;56(1):69-83. doi: 10.1016/j.jaad.2006.06.019. PMID: 17190623

Prognosis

Latimer KM, Gunther A, Kopec M
Am Fam Physician 2023 Jul;108(1):58-69. PMID: 37440739
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Guttman-Yassky E, Diaz A, Pavel AB, Fernandes M, Lefferdink R, Erickson T, Canter T, Rangel S, Peng X, Li R, Estrada Y, Xu H, Krueger JG, Paller AS
JAMA Dermatol 2019 Dec 1;155(12):1358-1370. doi: 10.1001/jamadermatol.2019.2983. PMID: 31596431Free PMC Article
Ferreli C, Gasparini G, Parodi A, Cozzani E, Rongioletti F, Atzori L
Clin Rev Allergy Immunol 2017 Dec;53(3):306-336. doi: 10.1007/s12016-017-8625-4. PMID: 28712039
van der Kooi AJ, de Visser M
Handb Clin Neurol 2014;119:495-512. doi: 10.1016/B978-0-7020-4086-3.00032-1. PMID: 24365315

Clinical prediction guides

Wang X, Ma R, Shi R, Qin H, Chen W, Yu Z, Ding Y, Peng C, Shi Y
J Transl Med 2023 Nov 20;21(1):834. doi: 10.1186/s12967-023-04726-y. PMID: 37986112Free PMC Article
Renert-Yuval Y, Del Duca E, Pavel AB, Fang M, Lefferdink R, Wu J, Diaz A, Estrada YD, Canter T, Zhang N, Wagner A, Chamlin S, Krueger JG, Guttman-Yassky E, Paller AS
J Allergy Clin Immunol 2021 Jul;148(1):148-163. Epub 2021 Jan 13 doi: 10.1016/j.jaci.2021.01.001. PMID: 33453290Free PMC Article
Song B, Yeh P, Nguyen D, Ikpeama U, Epstein M, Harrell J
Pain Physician 2020 Jul;23(4):429-438. PMID: 32709178
Guttman-Yassky E, Diaz A, Pavel AB, Fernandes M, Lefferdink R, Erickson T, Canter T, Rangel S, Peng X, Li R, Estrada Y, Xu H, Krueger JG, Paller AS
JAMA Dermatol 2019 Dec 1;155(12):1358-1370. doi: 10.1001/jamadermatol.2019.2983. PMID: 31596431Free PMC Article
Moosbrugger-Martinz V, Schmuth M, Dubrac S
Methods Mol Biol 2017;1559:91-106. doi: 10.1007/978-1-4939-6786-5_8. PMID: 28063040

Recent systematic reviews

Upadhyay PR, Seminario-Vidal L, Abe B, Ghobadi C, Sims JT
Cells 2023 Dec 8;12(24) doi: 10.3390/cells12242793. PMID: 38132113Free PMC Article
Aromolo IF, Maronese CA, Moltrasio C, Genovese G, Marzano AV
Int J Dermatol 2022 Nov;61(11):1353-1358. Epub 2022 Jan 20 doi: 10.1111/ijd.16045. PMID: 35049061
Nascimento RB, Araujo NS, Silva JC, Xavier FCA
Spec Care Dentist 2022 May;42(3):266-280. Epub 2021 Nov 18 doi: 10.1111/scd.12669. PMID: 34792813Free PMC Article
Antonini L, Le Mauff B, Marcelli C, Aouba A, de Boysson H
Autoimmun Rev 2020 Sep;19(9):102612. Epub 2020 Jul 12 doi: 10.1016/j.autrev.2020.102612. PMID: 32668290
Lai YC, Yew YW, Schwartz RA
Int J Dermatol 2016 May;55(5):e295-304. Epub 2016 Feb 12 doi: 10.1111/ijd.13234. PMID: 26873870

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