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Pseudoporphyria

MedGen UID:
636709
•Concept ID:
C0521616
•
Disease or Syndrome
SNOMED CT: Pseudoporphyria (95565000)

Definition

A drug-induced photodermatosis characterized by skin fragility, erythema, and the appearance of tense bullae, erosions and scarring in the absence of abnormalities in porphyrin metabolism. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudoporphyria

Professional guidelines

PubMed

Re-emergence of an orphan therapeutic target for the treatment of resistant prostate cancer - a thorough conformational and binding analysis for ROR-γ protein.
Ndagi U, Mhlongo NN, Soliman ME
J Biomol Struct Dyn 2018 Feb;36(2):335-350. Epub 2017 Jan 16 doi: 10.1080/07391102.2016.1277555. PMID: 28027708
The sensitivity and specificity of "caterpillar bodies" in the differential diagnosis of subepidermal blistering disorders.
Fung MA, Murphy MJ, Hoss DM, Berke A, Grant-Kels JM
Am J Dermatopathol 2003 Aug;25(4):287-90. doi: 10.1097/00000372-200308000-00002. PMID: 12876485
Porphyria cutanea tarda. Diagnosis, management, and differentiation from other hepatic porphyrias.
Grossman ME, Poh-Fitzpatrick MB
Dermatol Clin 1986 Apr;4(2):297-309. PMID: 3955900

Recent clinical studies

Etiology

Drug-associated porphyria: a pharmacovigilance study.
Wang Q, Zhuang JL, Han B, Chen M, Zhao B
Orphanet J Rare Dis 2024 Aug 1;19(1):286. doi: 10.1186/s13023-024-03294-8. PMID: 39090656Free PMC Article
Bullous Amyloidosis Masquerading as Pseudoporphyria.
Darji K, Butala N, Manders SM, Green JJ
Cutis 2021 Sep;108(3):E25-E28. doi: 10.12788/cutis.0370. PMID: 34826289
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.
de Groot HJ, Jonkman MF, Pas HH, Diercks GFH
Acta Derm Venereol 2019 Jan 1;99(1):26-32. doi: 10.2340/00015555-3021. PMID: 30176039
Porphyria cutanea tarda: an intriguing genetic disease and marker.
Handler NS, Handler MZ, Stephany MP, Handler GA, Schwartz RA
Int J Dermatol 2017 Jun;56(6):e106-e117. Epub 2017 Mar 21 doi: 10.1111/ijd.13580. PMID: 28321838
Dermatologic conditions seen in end-stage renal disease.
Cordova KB, Oberg TJ, Malik M, Robinson-Bostom L
Semin Dial 2009 Jan-Feb;22(1):45-55. doi: 10.1111/j.1525-139X.2008.00534.x. PMID: 19250446

Diagnosis

Photosensitizing drug reactions.
Montgomery S, Worswick S
Clin Dermatol 2022 Jan-Feb;40(1):57-63. Epub 2021 Aug 8 doi: 10.1016/j.clindermatol.2021.08.014. PMID: 35190066
Bullous Amyloidosis Masquerading as Pseudoporphyria.
Darji K, Butala N, Manders SM, Green JJ
Cutis 2021 Sep;108(3):E25-E28. doi: 10.12788/cutis.0370. PMID: 34826289
Photoonycholysis.
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Pseudoporphyria.
Green JJ, Manders SM
J Am Acad Dermatol 2001 Jan;44(1):100-8. doi: 10.1067/mjd.2000.111338. PMID: 11148469
Phototoxicity and photoallergy.
Epstein JH
Semin Cutan Med Surg 1999 Dec;18(4):274-84. doi: 10.1016/s1085-5629(99)80026-1. PMID: 10604793

Therapy

Photosensitizing drug reactions.
Montgomery S, Worswick S
Clin Dermatol 2022 Jan-Feb;40(1):57-63. Epub 2021 Aug 8 doi: 10.1016/j.clindermatol.2021.08.014. PMID: 35190066
Photoonycholysis: new findings.
Baran R, Mascaro JM, Aguilera P
J Eur Acad Dermatol Venereol 2019 Jan;33(1):56-62. Epub 2018 Jul 20 doi: 10.1111/jdv.15151. PMID: 29953667
N-acetylcysteine in dermatology.
Adil M, Amin SS, Mohtashim M
Indian J Dermatol Venereol Leprol 2018 Nov-Dec;84(6):652-659. doi: 10.4103/ijdvl.IJDVL_33_18. PMID: 30246706
Photoonycholysis.
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Phototoxicity and photoallergy.
Epstein JH
Semin Cutan Med Surg 1999 Dec;18(4):274-84. doi: 10.1016/s1085-5629(99)80026-1. PMID: 10604793

Prognosis

Drug-associated porphyria: a pharmacovigilance study.
Wang Q, Zhuang JL, Han B, Chen M, Zhao B
Orphanet J Rare Dis 2024 Aug 1;19(1):286. doi: 10.1186/s13023-024-03294-8. PMID: 39090656Free PMC Article
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.
de Groot HJ, Jonkman MF, Pas HH, Diercks GFH
Acta Derm Venereol 2019 Jan 1;99(1):26-32. doi: 10.2340/00015555-3021. PMID: 30176039
Cutaneous changes in patients with chronic renal failure on hemodialysis.
Onelmis H, Sener S, Sasmaz S, Ozer A
Cutan Ocul Toxicol 2012 Dec;31(4):286-91. Epub 2012 Feb 15 doi: 10.3109/15569527.2012.657726. PMID: 22335460
Melanoma associated with long-term voriconazole therapy: a new manifestation of chronic photosensitivity.
Miller DD, Cowen EW, Nguyen JC, McCalmont TH, Fox LP
Arch Dermatol 2010 Mar;146(3):300-4. Epub 2010 Jan 18 doi: 10.1001/archdermatol.2009.362. PMID: 20083676Free PMC Article
New syndromes in mushroom poisoning.
Saviuc P, Danel V
Toxicol Rev 2006;25(3):199-209. doi: 10.2165/00139709-200625030-00004. PMID: 17192123

Clinical prediction guides

Drug-associated porphyria: a pharmacovigilance study.
Wang Q, Zhuang JL, Han B, Chen M, Zhao B
Orphanet J Rare Dis 2024 Aug 1;19(1):286. doi: 10.1186/s13023-024-03294-8. PMID: 39090656Free PMC Article
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria.
de Groot HJ, Jonkman MF, Pas HH, Diercks GFH
Acta Derm Venereol 2019 Jan 1;99(1):26-32. doi: 10.2340/00015555-3021. PMID: 30176039
New syndromes in mushroom poisoning.
Saviuc P, Danel V
Toxicol Rev 2006;25(3):199-209. doi: 10.2165/00139709-200625030-00004. PMID: 17192123
Photoonycholysis.
Baran R, Juhlin L
Photodermatol Photoimmunol Photomed 2002 Aug;18(4):202-7. doi: 10.1034/j.1600-0781.2002.00760.x. PMID: 12390677
Nonsteroidal antiinflammatory drug-induced pseudoporphyria: a case series.
LaDuca JR, Bouman PH, Gaspari AA
J Cutan Med Surg 2002 Jul-Aug;6(4):320-6. Epub 2002 Jul 16 doi: 10.1007/s10227-001-0051-8. PMID: 12118363

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