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Panniculitis

MedGen UID:
45301
Concept ID:
C0030326
Disease or Syndrome
Synonym: Panniculitides
SNOMED CT: Panniculitis (22125009)
 
HPO: HP:0012490
Monarch Initiative: MONDO:0006591

Definition

Inflammation of subcutaneous adipose tissue. [from HPO]

Conditions with this feature

Acute febrile neutrophilic dermatosis
MedGen UID:
43097
Concept ID:
C0085077
Disease or Syndrome
Acute febrile neutrophilic dermatosis (AFND) is an autosomal dominant autoinflammatory disorder characterized by onset of recurrent fever and dermatologic abnormalities in childhood. Laboratory studies show elevated acute-phase reactants and activation of the inflammatory response, particularly IL1B (147720). Additional more variable features may include myalgia and arthralgia (summary by Masters et al., 2016).
Subcutaneous panniculitis-like T-cell lymphoma
MedGen UID:
99306
Concept ID:
C0522624
Neoplastic Process
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8 (see 186910)+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative (summary by Gayden et al., 2018). For a general discussion of genetic heterogeneity of HLH, see HLH1 (267700).
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
MedGen UID:
414066
Concept ID:
C2751630
Disease or Syndrome
G6PC3 deficiency is characterized by severe congenital neutropenia which occurs in a phenotypic continuum that includes the following: Isolated severe congenital neutropenia (nonsyndromic). Classic G6PC3 deficiency (severe congenital neutropenia plus cardiovascular and/or urogenital abnormalities). Severe G6PC3 deficiency (classic G6PC3 deficiency plus involvement of non-myeloid hematopoietic cell lines, additional extra-hematologic features, and pulmonary hypertension; known as Dursun syndrome). Neutropenia usually presents with recurrent bacterial infections in the first few months of life. Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. Other findings in classic and severe G6PC3 deficiency can include inflammatory bowel disease (IBD) resembling Crohn's disease, and endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism, and delayed puberty).
Vasculitis due to ADA2 deficiency
MedGen UID:
854497
Concept ID:
C3887654
Disease or Syndrome
Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.
Severe combined immunodeficiency due to LCK deficiency
MedGen UID:
862670
Concept ID:
C4014233
Disease or Syndrome
Immunodeficiency-22 (IMD22) is an autosomal recessive disorder characterized by the onset of recurrent bacterial, viral, and fungal respiratory, gastrointestinal, and skin infections in infancy or early childhood. Immunologic workup shows severe T-cell lymphopenia, particularly affecting the CD4+ subset, and impaired proximal TCR intracellular signaling and activation. Although NK cells and B cells are normal, some patients may have hypogammaglobulinemia secondary to the T-cell defect. There are variable manifestations, likely due to the severity of the particular LCK mutation: patients may develop prominent skin lesions resembling epidermodysplasia verruciformis, gastrointestinal inflammation, and virus-induced malignancy. The disease can be fatal in childhood, but hematopoietic stem cell transplant (HSCT) may be curative (Hauck et al., 2012; Li et al., 2016; Keller et al., 2023).
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
MedGen UID:
934581
Concept ID:
C4310614
Disease or Syndrome
Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein (CRP), leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.
Proteasome-associated autoinflammatory syndrome 3
MedGen UID:
1648456
Concept ID:
C4747850
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).
Proteasome-associated autoinflammatory syndrome 4
MedGen UID:
1780127
Concept ID:
C5543053
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see 147795) inhibitor ruxolitinib may result in clinical improvement (summary by de Jesus et al., 2019). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040).
Autoinflammatory disease, X-linked
MedGen UID:
1811268
Concept ID:
C5676885
Disease or Syndrome
X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature (de Jesus et al., 2020 and Lee et al., 2022).

Professional guidelines

PubMed

Suehiro K, Morikage N, Harada T, Takeuchi Y, Mizoguchi T, Ike S, Otuska R, Kurazumi H, Suzuki R, Hamano K
Phlebology 2023 Mar;38(2):73-79. Epub 2022 Dec 18 doi: 10.1177/02683555221147473. PMID: 36529929
Bailey E, Kroshinsky D
Dermatol Ther 2011 Mar-Apr;24(2):229-39. doi: 10.1111/j.1529-8019.2011.01398.x. PMID: 21410612
Cohen LM
Dermatol Nurs 1996 Dec;8(6):405-10, 415-6. PMID: 9069839

Recent clinical studies

Etiology

Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD
Rev Med Interne 2022 Dec;43(12):727-738. Epub 2022 Jul 20 doi: 10.1016/j.revmed.2022.06.007. PMID: 35870984
Stoll JR, Willner J, Oh Y, Pulitzer M, Moskowitz A, Horwitz S, Myskowski P, Noor SJ
J Am Acad Dermatol 2021 Nov;85(5):1073-1090. Epub 2021 Apr 30 doi: 10.1016/j.jaad.2021.04.080. PMID: 33940098
Buragina G, Magenta Biasina A, Carrafiello G
Acta Biomed 2019 Dec 23;90(4):411-422. doi: 10.23750/abm.v90i4.7696. PMID: 31910164Free PMC Article
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F
Orphanet J Rare Dis 2018 Jul 11;13(1):114. doi: 10.1186/s13023-018-0856-9. PMID: 29996870Free PMC Article
Hussein MR, Abdelwahed SR
Expert Rev Gastroenterol Hepatol 2015 Jan;9(1):67-78. Epub 2014 Sep 14 doi: 10.1586/17474124.2014.939632. PMID: 25220299

Diagnosis

Maniam GB, Coakley A, Huong Nguyen G, Alavi A, Davis MDP
Dermatol Clin 2024 Apr;42(2):285-295. Epub 2023 Sep 14 doi: 10.1016/j.det.2023.08.005. PMID: 38423687
Borges T, Silva S
Curr Rheumatol Rev 2024;20(4):350-360. doi: 10.2174/0115733971254702231020060633. PMID: 37921131
Buragina G, Magenta Biasina A, Carrafiello G
Acta Biomed 2019 Dec 23;90(4):411-422. doi: 10.23750/abm.v90i4.7696. PMID: 31910164Free PMC Article
Wick MR
Semin Diagn Pathol 2017 May;34(3):261-272. Epub 2016 Dec 27 doi: 10.1053/j.semdp.2016.12.004. PMID: 28129926
Hussein MR, Abdelwahed SR
Expert Rev Gastroenterol Hepatol 2015 Jan;9(1):67-78. Epub 2014 Sep 14 doi: 10.1586/17474124.2014.939632. PMID: 25220299

Therapy

Franciosi AN, Ralph J, O'Farrell NJ, Buckley C, Gulmann C, O'Kane M, Carroll TP, McElvaney NG
J Am Acad Dermatol 2022 Oct;87(4):825-832. Epub 2021 Jan 29 doi: 10.1016/j.jaad.2021.01.074. PMID: 33516773
de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R
J Clin Invest 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. PMID: 31874111Free PMC Article
Kgomo M, Elnagar A, Mashoshoe K
BMJ Case Rep 2017 Sep 4;2017 doi: 10.1136/bcr-2017-220910. PMID: 28870885Free PMC Article
Morrison LK, Rapini R, Willison CB, Tyring S
Dermatol Ther 2010 Jul-Aug;23(4):328-40. doi: 10.1111/j.1529-8019.2010.01333.x. PMID: 20666820
Quesada-Cortés A, Campos-Muñoz L, Díaz-Díaz RM, Casado-Jiménez M
Dermatol Clin 2008 Oct;26(4):485-9, vii. doi: 10.1016/j.det.2008.05.015. PMID: 18793981

Prognosis

Pérez-Garza DM, Chavez-Alvarez S, Ocampo-Candiani J, Gomez-Flores M
Am J Clin Dermatol 2021 May;22(3):367-378. Epub 2021 Mar 8 doi: 10.1007/s40257-021-00592-w. PMID: 33683567Free PMC Article
Sibaud V, Beylot-Barry M, Protin C, Vigarios E, Recher C, Ysebaert L
Am J Clin Dermatol 2020 Dec;21(6):799-812. doi: 10.1007/s40257-020-00535-x. PMID: 32613545
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F
Orphanet J Rare Dis 2018 Jul 11;13(1):114. doi: 10.1186/s13023-018-0856-9. PMID: 29996870Free PMC Article
Kgomo M, Elnagar A, Mashoshoe K
BMJ Case Rep 2017 Sep 4;2017 doi: 10.1136/bcr-2017-220910. PMID: 28870885Free PMC Article
Hussein MR, Abdelwahed SR
Expert Rev Gastroenterol Hepatol 2015 Jan;9(1):67-78. Epub 2014 Sep 14 doi: 10.1586/17474124.2014.939632. PMID: 25220299

Clinical prediction guides

de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, Calvo KR, Marrero B, Moir S, Oler AJ, Deng Z, Montealegre Sanchez GA, Ahmed A, Allenspach E, Arabshahi B, Behrens E, Benseler S, Bezrodnik L, Bout-Tabaku S, Brescia AC, Brown D, Burnham JM, Caldirola MS, Carrasco R, Chan AY, Cimaz R, Dancey P, Dare J, DeGuzman M, Dimitriades V, Ferguson I, Ferguson P, Finn L, Gattorno M, Grom AA, Hanson EP, Hashkes PJ, Hedrich CM, Herzog R, Horneff G, Jerath R, Kessler E, Kim H, Kingsbury DJ, Laxer RM, Lee PY, Lee-Kirsch MA, Lewandowski L, Li S, Lilleby V, Mammadova V, Moorthy LN, Nasrullayeva G, O'Neil KM, Onel K, Ozen S, Pan N, Pillet P, Piotto DG, Punaro MG, Reiff A, Reinhardt A, Rider LG, Rivas-Chacon R, Ronis T, Rösen-Wolff A, Roth J, Ruth NM, Rygg M, Schmeling H, Schulert G, Scott C, Seminario G, Shulman A, Sivaraman V, Son MB, Stepanovskiy Y, Stringer E, Taber S, Terreri MT, Tifft C, Torgerson T, Tosi L, Van Royen-Kerkhof A, Wampler Muskardin T, Canna SW, Goldbach-Mansky R
J Clin Invest 2020 Apr 1;130(4):1669-1682. doi: 10.1172/JCI129301. PMID: 31874111Free PMC Article
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F
Orphanet J Rare Dis 2018 Jul 11;13(1):114. doi: 10.1186/s13023-018-0856-9. PMID: 29996870Free PMC Article
Kurtzman DJB, Vleugels RA
J Am Acad Dermatol 2018 Apr;78(4):776-785. Epub 2017 Dec 9 doi: 10.1016/j.jaad.2017.12.010. PMID: 29229575
Hussein MR, Abdelwahed SR
Expert Rev Gastroenterol Hepatol 2015 Jan;9(1):67-78. Epub 2014 Sep 14 doi: 10.1586/17474124.2014.939632. PMID: 25220299
Borroni G, Torti S, D'Ospina RM, Pezzini C
G Ital Dermatol Venereol 2014 Apr;149(2):263-70. PMID: 24819647

Recent systematic reviews

Alsomali DY, Bakshi N, Kharfan-Dabaja M, El Fakih R, Aljurf M
Hematol Oncol Stem Cell Ther 2023 Jan 17;16(2):110-116. doi: 10.1016/j.hemonc.2021.04.001. PMID: 34015273
Resende L, Noites A, Amorim M
J Cosmet Dermatol 2022 Oct;21(10):4122-4132. Epub 2022 Aug 9 doi: 10.1111/jocd.15265. PMID: 35869825
Hussain I, Ishrat S, Aravamudan VM, Khan SR, Mohan BP, Lohan R, Abid MB, Ang TL
Medicine (Baltimore) 2022 Apr 29;101(17):e29143. doi: 10.1097/MD.0000000000029143. PMID: 35512070Free PMC Article
Sharma P, Yadav S, Needham CM, Feuerstadt P
Clin J Gastroenterol 2017 Apr;10(2):103-111. Epub 2017 Feb 14 doi: 10.1007/s12328-017-0716-5. PMID: 28197781
Halligan S, Plumb A, Taylor S
Eur Radiol 2016 Dec;26(12):4531-4537. Epub 2016 Apr 5 doi: 10.1007/s00330-016-4298-2. PMID: 27048526Free PMC Article

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