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Pyogenic arthritis, pyoderma gangrenosum and acne(PAPAS; FRA)

MedGen UID:
346801
Concept ID:
C1858361
Disease or Syndrome
Synonyms: Familial recurrent arthritis; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PSTPIP1 (15q24.3)
OMIM®: 604416
Orphanet: ORPHA69126

Definition

An autoinflammatory disease caused by mutations in the PSTPIP1 gene. It is characterized by episodes of destructive arthritis, ulcerative skin lesions and cystic acne. [from NCI]

Clinical features

Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Gastrointestinal dysmotility
MedGen UID:
324638
Concept ID:
C1836923
Finding
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Bone marrow hypocellularity
MedGen UID:
383749
Concept ID:
C1855710
Finding
A reduced number of hematopoietic cells present in the bone marrow.
Gastrointestinal dysmotility
MedGen UID:
324638
Concept ID:
C1836923
Finding
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Idiopathic myopathy
MedGen UID:
44564
Concept ID:
C0027121
Disease or Syndrome
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.Polymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.Polymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).In sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.
Idiopathic myopathy
MedGen UID:
44564
Concept ID:
C0027121
Disease or Syndrome
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.Polymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.Polymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).In sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.
Pyoderma
MedGen UID:
18783
Concept ID:
C0034212
Disease or Syndrome
Any purulent skin disease (Dorland, 27th ed).
Pustule
MedGen UID:
488804
Concept ID:
C0241157
Finding
A vesicle filled with leukocytes
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Finding
Enlargment (swelling) of a lymph node.
Abnormal immunoglobulin level
MedGen UID:
340953
Concept ID:
C1855755
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Recurrent cutaneous abscess formation
MedGen UID:
867572
Concept ID:
C4021957
Finding
An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
Acne
MedGen UID:
504704
Concept ID:
CN000996
Finding
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Body Temperature Changes
MedGen UID:
626
Concept ID:
C0005904
Sign or Symptom
An abnormality of temperature homeostasis.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Arthritis
MedGen UID:
504815
Concept ID:
CN001254
Finding
Inflammation of a joint.
Pyoderma
MedGen UID:
18783
Concept ID:
C0034212
Disease or Syndrome
Any purulent skin disease (Dorland, 27th ed).
Pustule
MedGen UID:
488804
Concept ID:
C0241157
Finding
A vesicle filled with leukocytes
Acne
MedGen UID:
504704
Concept ID:
CN000996
Finding
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyogenic arthritis, pyoderma gangrenosum and acne
Follow this link to review classifications for Pyogenic arthritis, pyoderma gangrenosum and acne in Orphanet.

Recent clinical studies

Etiology

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. [Epub ahead of print] PMID: 25683018
Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H
Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24 [Epub ahead of print] PMID: 24960411
Posso-De Los Rios CJ, Pope E
J Am Acad Dermatol 2014 Apr;70(4):767-73. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005. [Epub ahead of print] PMID: 24388422
Vitale A, Rigante D, Lucherini OM, Caso F, Muscari I, Magnotti F, Brizi MG, Guerrini S, Patti M, Punzi L, Galeazzi M, Cantarini L
Mediators Inflamm 2013;2013:939847. Epub 2013 Jul 21 doi: 10.1155/2013/939847. PMID: 23970817Free PMC Article
Marzano AV, Ishak RS, Colombo A, Caroli F, Crosti C
Dermatology 2012;225(3):215-9. Epub 2012 Nov 16 doi: 10.1159/000343602. [Epub ahead of print] PMID: 23171584

Diagnosis

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. [Epub ahead of print] PMID: 25683018
Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H
Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24 [Epub ahead of print] PMID: 24960411
Geusau A, Mothes-Luksch N, Nahavandi H, Pickl WF, Wise CA, Pourpak Z, Ponweiser E, Eckhart L, Sunder-Plassmann R
JAMA Dermatol 2013 Feb;149(2):209-15. doi: 10.1001/2013.jamadermatol.717. PMID: 23426477
Demidowich AP, Freeman AF, Kuhns DB, Aksentijevich I, Gallin JI, Turner ML, Kastner DL, Holland SM
Arthritis Rheum 2012 Jun;64(6):2022-7. Epub 2011 Dec 12 doi: 10.1002/art.34332. [Epub ahead of print] PMID: 22161697Free PMC Article
Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T
J Am Acad Dermatol 2012 Mar;66(3):409-15. Epub 2011 Jul 13 doi: 10.1016/j.jaad.2010.12.025. [Epub ahead of print] PMID: 21745697

Therapy

Khatibi K, Heit JJ, Telischak NA, Elbers JM, Do HM
BMJ Case Rep 2015 Jun 24;2015 doi: 10.1136/bcr-2015-011753. PMID: 26109622
Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H
Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24 [Epub ahead of print] PMID: 24960411
Geusau A, Mothes-Luksch N, Nahavandi H, Pickl WF, Wise CA, Pourpak Z, Ponweiser E, Eckhart L, Sunder-Plassmann R
JAMA Dermatol 2013 Feb;149(2):209-15. doi: 10.1001/2013.jamadermatol.717. PMID: 23426477
Bruzzese V
J Clin Rheumatol 2012 Dec;18(8):413-5. doi: 10.1097/RHU.0b013e318278b84c. PMID: 23188209
Demidowich AP, Freeman AF, Kuhns DB, Aksentijevich I, Gallin JI, Turner ML, Kastner DL, Holland SM
Arthritis Rheum 2012 Jun;64(6):2022-7. Epub 2011 Dec 12 doi: 10.1002/art.34332. [Epub ahead of print] PMID: 22161697Free PMC Article

Prognosis

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. [Epub ahead of print] PMID: 25683018
Posso-De Los Rios CJ, Pope E
J Am Acad Dermatol 2014 Apr;70(4):767-73. Epub 2013 Dec 31 doi: 10.1016/j.jaad.2013.11.005. [Epub ahead of print] PMID: 24388422
Verbsky JW
Curr Opin Rheumatol 2012 Sep;24(5):506-14. doi: 10.1097/BOR.0b013e32835689b9. PMID: 22832824
Demidowich AP, Freeman AF, Kuhns DB, Aksentijevich I, Gallin JI, Turner ML, Kastner DL, Holland SM
Arthritis Rheum 2012 Jun;64(6):2022-7. Epub 2011 Dec 12 doi: 10.1002/art.34332. [Epub ahead of print] PMID: 22161697Free PMC Article
Nesterovitch AB, Hoffman MD, Simon M, Petukhov PA, Tharp MD, Glant TT
Clin Exp Dermatol 2011 Dec;36(8):889-95. Epub 2011 Jul 25 doi: 10.1111/j.1365-2230.2011.04137.x. [Epub ahead of print] PMID: 21790734

Clinical prediction guides

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. [Epub ahead of print] PMID: 25683018
Geusau A, Mothes-Luksch N, Nahavandi H, Pickl WF, Wise CA, Pourpak Z, Ponweiser E, Eckhart L, Sunder-Plassmann R
JAMA Dermatol 2013 Feb;149(2):209-15. doi: 10.1001/2013.jamadermatol.717. PMID: 23426477
Nesterovitch AB, Hoffman MD, Simon M, Petukhov PA, Tharp MD, Glant TT
Clin Exp Dermatol 2011 Dec;36(8):889-95. Epub 2011 Jul 25 doi: 10.1111/j.1365-2230.2011.04137.x. [Epub ahead of print] PMID: 21790734
Stichweh DS, Punaro M, Pascual V
Pediatr Dermatol 2005 May-Jun;22(3):262-5. doi: 10.1111/j.1525-1470.2005.22320.x. PMID: 15916580
Yeon HB, Lindor NM, Seidman JG, Seidman CE
Am J Hum Genet 2000 Apr;66(4):1443-8. Epub 2000 Mar 21 doi: 10.1086/302866. [Epub ahead of print] PMID: 10729114Free PMC Article

Recent systematic reviews

Lindwall E, Singla S, Davis WE, Quinet RJ
Semin Arthritis Rheum 2015 Aug;45(1):91-3. Epub 2015 Mar 11 doi: 10.1016/j.semarthrit.2015.02.012. [Epub ahead of print] PMID: 25845478
DeFilippis EM, Feldman SR, Huang WW
Br J Dermatol 2015 Jun;172(6):1487-97. Epub 2015 Feb 27 doi: 10.1111/bjd.13493. [Epub ahead of print] PMID: 25350484

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