U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ichthyosis vulgaris

MedGen UID:
38217
•Concept ID:
C0079584
•
Disease or Syndrome
Synonyms: Dominant ichthyosis vulgaris; Ichthyosis simplex
SNOMED CT: Ichthyosis vulgaris (254157005)
 
Gene (location): FLG (1q21.3)
 
Monarch Initiative: MONDO:0024304
OMIM®: 146700

Definition

The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by Smith et al., 2006). [from OMIM]

Clinical features

From HPO
Palmar hyperlinearity
MedGen UID:
400466
•Concept ID:
C1864168
•
Finding
Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
See: Feature record | Search on this feature
Asthma
MedGen UID:
2109
•Concept ID:
C0004096
•
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
See: Feature record | Search on this feature
Eczematoid dermatitis
MedGen UID:
3968
•Concept ID:
C0013595
•
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
See: Feature record | Search on this feature
Ichthyosis
MedGen UID:
7002
•Concept ID:
C0020757
•
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
See: Feature record | Search on this feature
Dry skin
MedGen UID:
56250
•Concept ID:
C0151908
•
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
See: Feature record | Search on this feature
Keratosis pilaris
MedGen UID:
82664
•Concept ID:
C0263383
•
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
See: Feature record | Search on this feature
Absent keratohyalin granules
MedGen UID:
1785642
•Concept ID:
C5539824
•
Finding
Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis vulgaris

Professional guidelines

PubMed

Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Ichthyosis: clinical manifestations and practical treatment options.
Oji V, Traupe H
Am J Clin Dermatol 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. PMID: 19824737
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Ichthyosis vulgaris: the filaggrin mutation disease.
Thyssen JP, Godoy-Gijon E, Elias PM
Br J Dermatol 2013 Jun;168(6):1155-66. Epub 2013 May 6 doi: 10.1111/bjd.12219. PMID: 23301728Free PMC Article
One remarkable molecule: filaggrin.
Brown SJ, McLean WH
J Invest Dermatol 2012 Mar;132(3 Pt 2):751-62. Epub 2011 Dec 8 doi: 10.1038/jid.2011.393. PMID: 22158554Free PMC Article
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Genetic skin diseases.
Francis JS
Curr Opin Pediatr 1994 Aug;6(4):447-53. doi: 10.1097/00008480-199408000-00016. PMID: 7951667

Diagnosis

Keratosis pilaris: an update and approach to management.
Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Filaggrin and atopic march.
Čepelak I, Dodig S, Pavić I
Biochem Med (Zagreb) 2019 Jun 15;29(2):020501. doi: 10.11613/BM.2019.020501. PMID: 31223255Free PMC Article
Asthma severity, nature or nurture: genetic determinants.
Raby BA
Curr Opin Pediatr 2019 Jun;31(3):340-348. doi: 10.1097/MOP.0000000000000758. PMID: 31090575
Topical urea in skincare: A review.
Celleno L
Dermatol Ther 2018 Nov;31(6):e12690. Epub 2018 Oct 30 doi: 10.1111/dth.12690. PMID: 30378232
Inherited ichthyosis: Non-syndromic forms.
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

Therapy

Topical urea in skincare: A review.
Celleno L
Dermatol Ther 2018 Nov;31(6):e12690. Epub 2018 Oct 30 doi: 10.1111/dth.12690. PMID: 30378232
Treatment of ichthyosis vulgaris with a urea-based emulsion: videodermatoscopy and confocal microscopy evaluation.
Benintende C, Boscaglia S, Dinotta F, Lacarrubba F, Micali G
G Ital Dermatol Venereol 2017 Dec;152(6):555-559. doi: 10.23736/S0392-0488.17.05743-1. PMID: 29050444
Urea: A Clinically Oriented Overview from Bench to Bedside.
Friedman AJ, von Grote EC, Meckfessel MH
J Drugs Dermatol 2016 May 1;15(5):633-9. PMID: 27168272
Barrier repair therapy in atopic dermatitis: an overview.
Hon KL, Leung AK, Barankin B
Am J Clin Dermatol 2013 Oct;14(5):389-99. doi: 10.1007/s40257-013-0033-9. PMID: 23757122
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Prognosis

A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.
Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202
Evolving concepts of pathogenesis in atopic dermatitis and other eczemas.
Hanifin JM
J Invest Dermatol 2009 Feb;129(2):320-2. Epub 2008 Aug 21 doi: 10.1038/jid.2008.252. PMID: 18719604
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.
Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H
J Allergy Clin Immunol 2007 Feb;119(2):434-40. doi: 10.1016/j.jaci.2006.12.646. PMID: 17291859
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Investigations into the FLG Null Phenotype: Showcasing the Methodology for CRISPR/Cas9 Editing of Human Keratinocytes.
Smits JPH, van den Brink NJM, Meesters LD, Hamdaoui H, Niehues H, Jansen PAM, van Vlijmen-Willems IMJJ, Rodijk-Olthuis D, Evrard C, Poumay Y, van Geel M, Hendriks WJAJ, Schalkwijk J, Zeeuwen PLJM, van den Bogaard EH
J Invest Dermatol 2023 Aug;143(8):1520-1528.e5. Epub 2023 Mar 7 doi: 10.1016/j.jid.2023.02.021. PMID: 36893939
Genodermatoses in Las Tunas Province, Cuba, 1989-2019.
Velázquez-Ávila Y, Valenciano-Rodríguez CR
MEDICC Rev 2021 Apr;23(2):34. Epub 2021 Apr 30 doi: 10.37757/MR2021.V23.N2.10. PMID: 33974602
3D-Organotypic Cultures to Unravel Molecular and Cellular Abnormalities in Atopic Dermatitis and Ichthyosis Vulgaris.
Leman G, Moosbrugger-Martinz V, Blunder S, Pavel P, Dubrac S
Cells 2019 May 22;8(5) doi: 10.3390/cells8050489. PMID: 31121896Free PMC Article
Ichthyosis vulgaris: the filaggrin mutation disease.
Thyssen JP, Godoy-Gijon E, Elias PM
Br J Dermatol 2013 Jun;168(6):1155-66. Epub 2013 May 6 doi: 10.1111/bjd.12219. PMID: 23301728Free PMC Article
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.
Akiyama M
Br J Dermatol 2010 Mar;162(3):472-7. Epub 2009 Dec 2 doi: 10.1111/j.1365-2133.2009.09582.x. PMID: 19958351

Recent systematic reviews

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300
Clinical Effectiveness of Moisturizers in Atopic Dermatitis and Related Disorders: A Systematic Review.
Lindh JD, Bradley M
Am J Clin Dermatol 2015 Oct;16(5):341-59. doi: 10.1007/s40257-015-0146-4. PMID: 26267423
A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.
Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...