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Rectal abscess

MedGen UID:
57700
Concept ID:
C0149770
Pathologic Function
Synonyms: Perirectal abscess; Rectal boil
SNOMED CT: Rectal abscess (197166005); Rectal boil (197166005)
 
HPO: HP:0005224

Definition

A collection of pus in the area of the rectum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRectal abscess

Conditions with this feature

Leukocyte adhesion deficiency 1
MedGen UID:
98310
Concept ID:
C0398738
Disease or Syndrome
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. Genetic Heterogeneity of Leukocyte Adhesion Deficiency Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901).
Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Neutrophil immunodeficiency syndrome
MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.
Granulomatous disease, chronic, X-linked
MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
MedGen UID:
383869
Concept ID:
C1856245
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
MedGen UID:
341102
Concept ID:
C1856251
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
MedGen UID:
383872
Concept ID:
C1856255
Disease or Syndrome
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis). Granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. While CGD may present anytime from infancy to late adulthood, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival.
Autosomal recessive agammaglobulinemia 1
MedGen UID:
463494
Concept ID:
C3152144
Disease or Syndrome
Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. Genetic Heterogeneity of Autosomal Agammaglobulinemia Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (613500), caused by mutation in the IGLL1 gene (146770); AGM3 (613501), caused by mutation in the CD79A gene (112205); AGM4 (613502), caused by mutation in the BLNK gene (604515); AGM5 (613506), caused by disruption of the LRRC8 gene (608360); AGM6 (612692), caused by mutation in the CD79B gene (147245); AGM7 (615214), caused by mutation in the PIK3R1 gene (171833); AGM8 (616941), caused by mutation in the TCF3 gene (147141); AGM9 (619693), caused by mutation in the SLC39A7 gene (601416); and AGM10 (619707), caused by mutation in the SPI1 gene (165170).

Professional guidelines

PubMed

Pusceddu C, Sotgia B, Melis L, Fele RM, Meloni GB
Abdom Imaging 2013 Dec;38(6):1225-33. doi: 10.1007/s00261-013-0012-x. PMID: 23736888

Recent clinical studies

Etiology

Mohamedahmed AYY, Zaman S, Stonelake S, Ahmad AN, Datta U, Hajibandeh S, Hajibandeh S
Langenbecks Arch Surg 2021 Jun;406(4):981-991. Epub 2020 Aug 1 doi: 10.1007/s00423-020-01941-9. PMID: 32740696
Rasane RK, Centeno Coleoglou AA, Horn CB, Torres MB, Nohra E, Zhang Q, Bochicchio KM, Ilahi ON, Mazuski JE, Bochicchio GV
Surg Infect (Larchmt) 2020 Dec;21(10):823-827. Epub 2020 Mar 12 doi: 10.1089/sur.2019.308. PMID: 32175822
Gill S, Stetler JL, Patel A, Shaffer VO, Srinivasan J, Staley C, Davis SS Jr, Lin E, Sullivan PS
J Gastrointest Surg 2015 Aug;19(8):1528-36. Epub 2015 May 28 doi: 10.1007/s11605-015-2858-4. PMID: 26019055
Graf W, Mellgren A, Matzel KE, Hull T, Johansson C, Bernstein M; NASHA Dx Study Group
Lancet 2011 Mar 19;377(9770):997-1003. doi: 10.1016/S0140-6736(10)62297-0. PMID: 21420555
Uehling DT, Hahnfeld LE, Scanlan KA
BJU Int 2000 May;85(7):885-8. doi: 10.1046/j.1464-410x.2000.00622.x. PMID: 10792171

Diagnosis

Moynan D, Maqbool E, de Barra E
Acute Med 2022;21(2):115-116. doi: 10.52964/AMJA.0908. PMID: 35681187
Henry R, Clark D, Golden A, Matsushima K, Inaba K
Am Surg 2022 Jul;88(7):1714-1716. Epub 2020 Sep 9 doi: 10.1177/0003134820948897. PMID: 32902329
Caliste X, Nazir S, Goode T, Street JH 3rd, Hockstein M, McArthur K, Trankiem CT, Sava JA
Am Surg 2011 Feb;77(2):166-8. PMID: 21337873
Galanakis E, Bitsori M, Maraki S, Giannakopoulou C, Samonis G, Tselentis Y
Int J Infect Dis 2007 Jan;11(1):36-9. Epub 2006 Mar 27 doi: 10.1016/j.ijid.2005.09.004. PMID: 16564718
Uehling DT, Hahnfeld LE, Scanlan KA
BJU Int 2000 May;85(7):885-8. doi: 10.1046/j.1464-410x.2000.00622.x. PMID: 10792171

Therapy

Moynan D, Maqbool E, de Barra E
Acute Med 2022;21(2):115-116. doi: 10.52964/AMJA.0908. PMID: 35681187
Mohamedahmed AYY, Zaman S, Stonelake S, Ahmad AN, Datta U, Hajibandeh S, Hajibandeh S
Langenbecks Arch Surg 2021 Jun;406(4):981-991. Epub 2020 Aug 1 doi: 10.1007/s00423-020-01941-9. PMID: 32740696
Palmieri L, Corallino D, Herencia IEC, Meoli F, Paganini AM
Ann Ital Chir 2020;91:538-543. PMID: 33295302
Rasane RK, Centeno Coleoglou AA, Horn CB, Torres MB, Nohra E, Zhang Q, Bochicchio KM, Ilahi ON, Mazuski JE, Bochicchio GV
Surg Infect (Larchmt) 2020 Dec;21(10):823-827. Epub 2020 Mar 12 doi: 10.1089/sur.2019.308. PMID: 32175822
Chang SH, Huang YH, Huang MC, Hsu TC
Taiwan J Obstet Gynecol 2011 Jun;50(2):240-1. doi: 10.1016/j.tjog.2011.01.021. PMID: 21791319

Prognosis

Basoglu M, Ozbey I, Atamanalp SS, Yildirgan MI, Aydinli B, Polat O, Ozturk G, Peker K, Onbas O, Oren D
Surg Today 2007;37(7):558-63. Epub 2007 Jun 26 doi: 10.1007/s00595-006-3391-6. PMID: 17593474
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J Infect 2003 Jul;47(1):82-4. doi: 10.1016/s0163-4453(03)00007-0. PMID: 12850168
Borer A, Gilad J, Sikuler E, Riesenberg K, Schlaeffer F, Buskila D
J Infect 1999 Mar;38(2):128-9. doi: 10.1016/s0163-4453(99)90083-x. PMID: 10342656
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J Surg Oncol 1996 Aug;62(4):267-72. doi: 10.1002/(SICI)1096-9098(199608)62:4<267::AID-JSO8>3.0.CO;2-4. PMID: 8691840

Clinical prediction guides

Pusceddu C, Sotgia B, Melis L, Fele RM, Meloni GB
Abdom Imaging 2013 Dec;38(6):1225-33. doi: 10.1007/s00261-013-0012-x. PMID: 23736888

Recent systematic reviews

Mohamedahmed AYY, Zaman S, Stonelake S, Ahmad AN, Datta U, Hajibandeh S, Hajibandeh S
Langenbecks Arch Surg 2021 Jun;406(4):981-991. Epub 2020 Aug 1 doi: 10.1007/s00423-020-01941-9. PMID: 32740696

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