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Recurrent cutaneous abscess formation

MedGen UID:
867572
Concept ID:
C4021957
Finding
HPO: HP:0100838

Definition

An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRecurrent cutaneous abscess formation

Conditions with this feature

Acne inversa, familial, 2
MedGen UID:
462387
Concept ID:
C3151037
Disease or Syndrome
Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see 179850) (Zhou et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see 142690.
Acne inversa, familial, 3
MedGen UID:
462388
Concept ID:
C3151038
Disease or Syndrome
Acne inversa, also known as hidradenitis suppurativa, is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690.
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1648470
Concept ID:
C4721531
Disease or Syndrome
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.
Severe combined immunodeficiency due to CARMIL2 deficiency
MedGen UID:
1648422
Concept ID:
C4748304
Disease or Syndrome
Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).
Immunodeficiency 81
MedGen UID:
1788669
Concept ID:
C5543540
Disease or Syndrome
Immunodeficiency-81 (IMD81) is an autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation, indicating a complex disorder with a wide range of hematopoietic disturbances. The disorder is caused by a defect in intracellular signaling pathways (summary by Lev et al., 2021).

Professional guidelines

PubMed

Hafner S, Seufferlein T, Kleger A, Müller M
Z Gastroenterol 2024 Feb;62(2):208-217. Epub 2023 Oct 12 doi: 10.1055/a-2075-5082. PMID: 37827501
Yazdanyar S, Jemec GB
Curr Opin Infect Dis 2011 Apr;24(2):118-23. doi: 10.1097/QCO.0b013e3283428d07. PMID: 21192260
Meguid MM, Oler A, Numann PJ, Khan S
Surgery 1995 Oct;118(4):775-82. doi: 10.1016/s0039-6060(05)80049-2. PMID: 7570336

Recent clinical studies

Etiology

Hafner S, Seufferlein T, Kleger A, Müller M
Z Gastroenterol 2024 Feb;62(2):208-217. Epub 2023 Oct 12 doi: 10.1055/a-2075-5082. PMID: 37827501
Matsumoto Y, Yokoi H, Ikeda T, Kawada M, Ogawa M, Saito K
Auris Nasus Larynx 2021 Aug;48(4):758-763. Epub 2021 Jan 9 doi: 10.1016/j.anl.2020.12.005. PMID: 33436301
Marzano AV, Borghi A, Wallach D, Cugno M
Clin Rev Allergy Immunol 2018 Feb;54(1):114-130. doi: 10.1007/s12016-017-8621-8. PMID: 28688013
Alharbi Z, Kauczok J, Pallua N
BMC Dermatol 2012 Jun 26;12:9. doi: 10.1186/1471-5945-12-9. PMID: 22734714Free PMC Article
Celestin R, Brown J, Kihiczak G, Schwartz RA
Acta Dermatovenerol Alp Pannonica Adriat 2007 Sep;16(3):123-7. PMID: 17994173

Diagnosis

Hafner S, Seufferlein T, Kleger A, Müller M
Z Gastroenterol 2024 Feb;62(2):208-217. Epub 2023 Oct 12 doi: 10.1055/a-2075-5082. PMID: 37827501
Matsumoto Y, Yokoi H, Ikeda T, Kawada M, Ogawa M, Saito K
Auris Nasus Larynx 2021 Aug;48(4):758-763. Epub 2021 Jan 9 doi: 10.1016/j.anl.2020.12.005. PMID: 33436301
Marzano AV, Borghi A, Wallach D, Cugno M
Clin Rev Allergy Immunol 2018 Feb;54(1):114-130. doi: 10.1007/s12016-017-8621-8. PMID: 28688013
Zhang P, Tian X
Eur Arch Otorhinolaryngol 2016 Mar;273(3):735-9. Epub 2015 Feb 24 doi: 10.1007/s00405-015-3572-2. PMID: 25708412
Celestin R, Brown J, Kihiczak G, Schwartz RA
Acta Dermatovenerol Alp Pannonica Adriat 2007 Sep;16(3):123-7. PMID: 17994173

Therapy

Hafner S, Seufferlein T, Kleger A, Müller M
Z Gastroenterol 2024 Feb;62(2):208-217. Epub 2023 Oct 12 doi: 10.1055/a-2075-5082. PMID: 37827501
Zhang P, Tian X
Eur Arch Otorhinolaryngol 2016 Mar;273(3):735-9. Epub 2015 Feb 24 doi: 10.1007/s00405-015-3572-2. PMID: 25708412
Yazdanyar S, Jemec GB
Curr Opin Infect Dis 2011 Apr;24(2):118-23. doi: 10.1097/QCO.0b013e3283428d07. PMID: 21192260
Celestin R, Brown J, Kihiczak G, Schwartz RA
Acta Dermatovenerol Alp Pannonica Adriat 2007 Sep;16(3):123-7. PMID: 17994173
Saarinen RT, Kolho KL, Pitkäranta A
Int J Pediatr Otorhinolaryngol 2007 Jun;71(6):897-901. Epub 2007 Mar 28 doi: 10.1016/j.ijporl.2007.02.011. PMID: 17395276

Prognosis

Hafner S, Seufferlein T, Kleger A, Müller M
Z Gastroenterol 2024 Feb;62(2):208-217. Epub 2023 Oct 12 doi: 10.1055/a-2075-5082. PMID: 37827501
Yazdanyar S, Jemec GB
Curr Opin Infect Dis 2011 Apr;24(2):118-23. doi: 10.1097/QCO.0b013e3283428d07. PMID: 21192260
Saarinen RT, Kolho KL, Pitkäranta A
Int J Pediatr Otorhinolaryngol 2007 Jun;71(6):897-901. Epub 2007 Mar 28 doi: 10.1016/j.ijporl.2007.02.011. PMID: 17395276
Park SW, Han MH, Sung MH, Kim IO, Kim KH, Chang KH, Han MC
AJNR Am J Neuroradiol 2000 May;21(5):817-22. PMID: 10815654Free PMC Article
Rabens SF, Bethune JE
Arch Dermatol 1975 Mar;111(3):357-61. PMID: 804294

Clinical prediction guides

Matsumoto Y, Yokoi H, Ikeda T, Kawada M, Ogawa M, Saito K
Auris Nasus Larynx 2021 Aug;48(4):758-763. Epub 2021 Jan 9 doi: 10.1016/j.anl.2020.12.005. PMID: 33436301
Ohno M, Kanamori Y, Tomonaga K, Yamashita T, Migita M, Takezoe T, Watanabe T, Fuchimoto Y, Matsuoka K
Int J Pediatr Otorhinolaryngol 2015 Dec;79(12):2120-3. Epub 2015 Sep 30 doi: 10.1016/j.ijporl.2015.09.025. PMID: 26453273
Moreno S, Forcada P, Soria X, Altemir V, Gatius S, Gil M, Matías-Guiu X, Casanova JM, Martí RM
J Cutan Pathol 2014 Jul;41(7):602-5. Epub 2014 Mar 7 doi: 10.1111/cup.12316. PMID: 24673442
Alharbi Z, Kauczok J, Pallua N
BMC Dermatol 2012 Jun 26;12:9. doi: 10.1186/1471-5945-12-9. PMID: 22734714Free PMC Article
Gilaberte M, Bartralot R, Torres JM, Reus FS, Rodríguez V, Alomar A, Pujol RM
J Am Acad Dermatol 2005 Apr;52(4):653-9. doi: 10.1016/j.jaad.2004.10.875. PMID: 15793517

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