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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.
Autosomal dominant inheritance (Orphanet)
 
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

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.
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
Light and laser treatment modalities for disseminated superficial actinic porokeratosis: a systematic review.
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
Disseminated superficial actinic porokeratosis: a treatment review.
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

A Review of the Efficacy of Topical Statins for Treating Disseminated Superficial Actinic Porokeratosis.
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
Safety and Efficacy of Topical Lovastatin Plus Cholesterol Cream vs Topical Lovastatin Cream Alone for the Treatment of Disseminated Superficial Actinic Porokeratosis: A Randomized Clinical Trial.
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
Disseminated superficial actinic porokeratosis following hydroxyurea treatment: A case report.
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
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.
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
Porokeratoses: an update of clinical, aetiopathogenic and therapeutic features.
Kanitakis J
Eur J Dermatol 2014 Sep-Oct;24(5):533-44. doi: 10.1684/ejd.2014.2402. PMID: 25115203

Diagnosis

Safety and Efficacy of Topical Lovastatin Plus Cholesterol Cream vs Topical Lovastatin Cream Alone for the Treatment of Disseminated Superficial Actinic Porokeratosis: A Randomized Clinical Trial.
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
Drugs associated with development of porokeratosis: A systematic review.
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
A precancerous skin lesion that is often misdiagnosed.
Ng DM, Brand R
Aust J Gen Pract 2019 Nov;48(11):765-768. doi: 10.31128/AJGP-04-19-4914. PMID: 31722456
Dermoscopy of Disseminated Superficial Actinic Porokeratosis.
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
Pustular porokeratosis.
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

A Review of the Efficacy of Topical Statins for Treating Disseminated Superficial Actinic Porokeratosis.
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
Safety and Efficacy of Topical Lovastatin Plus Cholesterol Cream vs Topical Lovastatin Cream Alone for the Treatment of Disseminated Superficial Actinic Porokeratosis: A Randomized Clinical Trial.
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
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.
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
Light and laser treatment modalities for disseminated superficial actinic porokeratosis: a systematic review.
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
Pustular porokeratosis.
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

Eruptive disseminated porokeratosis associated with corticosteroid-induced immunosuppression.
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
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.
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
Porokeratoses: an update of clinical, aetiopathogenic and therapeutic features.
Kanitakis J
Eur J Dermatol 2014 Sep-Oct;24(5):533-44. doi: 10.1684/ejd.2014.2402. PMID: 25115203
Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.
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
Dohi Memorial Lecture. New aspects of cutaneous mosaicism.
Happle R
J Dermatol 2002 Nov;29(11):681-92. doi: 10.1111/j.1346-8138.2002.tb00204.x. PMID: 12484429

Clinical prediction guides

Topical simvastatin-cholesterol for disseminated superficial actinic porokeratosis: An open-label, split-body clinical trial.
Byth LA, Byth J
Australas J Dermatol 2021 Aug;62(3):310-313. Epub 2021 May 24 doi: 10.1111/ajd.13601. PMID: 34028808
Drugs associated with development of porokeratosis: A systematic review.
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
Dermoscopy of Disseminated Superficial Actinic Porokeratosis.
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
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3.
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
Disseminated superficial "actinic" porokeratosis.
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

Effects of Blue Light on the Skin and Its Therapeutic Uses: Photodynamic Therapy and Beyond.
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
Drugs associated with development of porokeratosis: A systematic review.
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
Light and laser treatment modalities for disseminated superficial actinic porokeratosis: a systematic review.
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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