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Disseminated superficial actinic porokeratosis

MedGen UID:
120561
Concept ID:
C0265970
Disease or Syndrome
Synonyms: Disseminated Superficial Actinic Porokeratosis; Porokeratosis, Disseminated Superficial Actinic
SNOMED CT: DSAP - Disseminated superficial actinic porokeratosis (41495000); Disseminated superficial actinic porokeratosis (41495000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
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.
 
Monarch Initiative: MONDO:0019212
Orphanet: ORPHA79152

Definition

A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisseminated superficial actinic porokeratosis
Follow this link to review classifications for Disseminated superficial actinic porokeratosis in Orphanet.

Professional guidelines

PubMed

Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, Choate KA
J Am Acad Dermatol 2020 Jan;82(1):123-131. Epub 2019 Aug 23 doi: 10.1016/j.jaad.2019.08.043. PMID: 31449901Free PMC Article
Aird GA, Sitenga JL, Nguyen AH, Vaudreuil A, Huerter CJ
Lasers Med Sci 2017 May;32(4):945-952. Epub 2017 Feb 27 doi: 10.1007/s10103-017-2179-9. PMID: 28239750
Skupsky H, Skupsky J, Goldenberg G
J Dermatolog Treat 2012 Feb;23(1):52-6. Epub 2010 Oct 22 doi: 10.3109/09546634.2010.495381. PMID: 20964569

Recent clinical studies

Etiology

Ghani H, Richards E, Truong TM, Rao BK, Zhang A
J Drugs Dermatol 2023 Oct 1;22(10):1053-1057. doi: 10.36849/JDD.7540. PMID: 37801522
Santa Lucia G, Snyder A, Lateef A, Drohan A, Gregoski MJ, Barton V, Elston DM
JAMA Dermatol 2023 May 1;159(5):488-495. doi: 10.1001/jamadermatol.2023.0205. PMID: 36947042Free PMC Article
Romagnuolo M, Riva D, Alberti Violetti S, Di Benedetto A, Barberi F, Moltrasio C
Australas J Dermatol 2023 Feb;64(1):e72-e75. Epub 2022 Nov 1 doi: 10.1111/ajd.13943. PMID: 36320094
Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, Choate KA
J Am Acad Dermatol 2020 Jan;82(1):123-131. Epub 2019 Aug 23 doi: 10.1016/j.jaad.2019.08.043. PMID: 31449901Free PMC Article
Kanitakis J
Eur J Dermatol 2014 Sep-Oct;24(5):533-44. doi: 10.1684/ejd.2014.2402. PMID: 25115203

Diagnosis

Santa Lucia G, Snyder A, Lateef A, Drohan A, Gregoski MJ, Barton V, Elston DM
JAMA Dermatol 2023 May 1;159(5):488-495. doi: 10.1001/jamadermatol.2023.0205. PMID: 36947042Free PMC Article
Lu JD, Mufti A, Sachdeva M, Rahat S, Lansang RP, Yeung J
Dermatol Ther 2021 Jan;34(1):e14560. Epub 2020 Dec 1 doi: 10.1111/dth.14560. PMID: 33210788
Ng DM, Brand R
Aust J Gen Pract 2019 Nov;48(11):765-768. doi: 10.31128/AJGP-04-19-4914. PMID: 31722456
Nicola A, Magliano J
Actas Dermosifiliogr 2017 Jun;108(5):e33-e37. Epub 2016 Mar 23 doi: 10.1016/j.ad.2015.09.025. PMID: 27015657
Miller DD, Ruben BS
J Cutan Pathol 2009 Nov;36(11):1191-3. Epub 2009 Jun 4 doi: 10.1111/j.1600-0560.2009.01251.x. PMID: 19508498

Therapy

Ghani H, Richards E, Truong TM, Rao BK, Zhang A
J Drugs Dermatol 2023 Oct 1;22(10):1053-1057. doi: 10.36849/JDD.7540. PMID: 37801522
Santa Lucia G, Snyder A, Lateef A, Drohan A, Gregoski MJ, Barton V, Elston DM
JAMA Dermatol 2023 May 1;159(5):488-495. doi: 10.1001/jamadermatol.2023.0205. PMID: 36947042Free PMC Article
Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, Choate KA
J Am Acad Dermatol 2020 Jan;82(1):123-131. Epub 2019 Aug 23 doi: 10.1016/j.jaad.2019.08.043. PMID: 31449901Free PMC Article
Aird GA, Sitenga JL, Nguyen AH, Vaudreuil A, Huerter CJ
Lasers Med Sci 2017 May;32(4):945-952. Epub 2017 Feb 27 doi: 10.1007/s10103-017-2179-9. PMID: 28239750
Miller DD, Ruben BS
J Cutan Pathol 2009 Nov;36(11):1191-3. Epub 2009 Jun 4 doi: 10.1111/j.1600-0560.2009.01251.x. PMID: 19508498

Prognosis

Bednarek R, Ezra N, Toubin Y, Linos K, Mousdicas N
Clin Exp Dermatol 2015 Oct;40(7):753-6. Epub 2015 Mar 18 doi: 10.1111/ced.12636. PMID: 25800103
Cui H, Li L, Wang W, Shen J, Yue Z, Zheng X, Zuo X, Liang B, Gao M, Fan X, Yin X, Shen C, Yang C, Zhang C, Zhang X, Sheng Y, Gao J, Zhu Z, Lin D, Zhang A, Wang Z, Liu S, Sun L, Yang S, Cui Y, Zhang X
J Med Genet 2014 Oct;51(10):699-704. Epub 2014 Sep 1 doi: 10.1136/jmedgenet-2014-102486. PMID: 25180256
Kanitakis J
Eur J Dermatol 2014 Sep-Oct;24(5):533-44. doi: 10.1684/ejd.2014.2402. PMID: 25115203
Lu WS, Zheng XD, Yao XH, Zhang LF, Hu B, Lu YJ
Int J Clin Exp Pathol 2014;7(2):728-32. Epub 2014 Jan 15 PMID: 24551296Free PMC Article
Happle R
J Dermatol 2002 Nov;29(11):681-92. doi: 10.1111/j.1346-8138.2002.tb00204.x. PMID: 12484429

Clinical prediction guides

Byth LA, Byth J
Australas J Dermatol 2021 Aug;62(3):310-313. Epub 2021 May 24 doi: 10.1111/ajd.13601. PMID: 34028808
Lu JD, Mufti A, Sachdeva M, Rahat S, Lansang RP, Yeung J
Dermatol Ther 2021 Jan;34(1):e14560. Epub 2020 Dec 1 doi: 10.1111/dth.14560. PMID: 33210788
Nicola A, Magliano J
Actas Dermosifiliogr 2017 Jun;108(5):e33-e37. Epub 2016 Mar 23 doi: 10.1016/j.ad.2015.09.025. PMID: 27015657
Luan J, Niu Z, Zhang J, Crosby ME, Zhang Z, Chu X, Wang Z, Huang W, Xiang L, Zheng Z
Hum Genet 2011 Mar;129(3):329-34. Epub 2010 Dec 14 doi: 10.1007/s00439-010-0929-x. PMID: 21161278
Schwarz T, Seiser A, Gschnait F
J Am Acad Dermatol 1984 Oct;11(4 Pt 2):724-30. doi: 10.1016/s0190-9622(84)70229-5. PMID: 6490996

Recent systematic reviews

Pieper C, Lee EB, Swali R, Harp K, Wysong A
Dermatol Surg 2022 Aug 1;48(8):802-808. Epub 2022 Jun 24 doi: 10.1097/DSS.0000000000003500. PMID: 35917260
Lu JD, Mufti A, Sachdeva M, Rahat S, Lansang RP, Yeung J
Dermatol Ther 2021 Jan;34(1):e14560. Epub 2020 Dec 1 doi: 10.1111/dth.14560. PMID: 33210788
Aird GA, Sitenga JL, Nguyen AH, Vaudreuil A, Huerter CJ
Lasers Med Sci 2017 May;32(4):945-952. Epub 2017 Feb 27 doi: 10.1007/s10103-017-2179-9. PMID: 28239750

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