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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.
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.
Eczema
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.
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.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
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.
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.

Term Hierarchy

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

Professional guidelines

PubMed

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
Oji V, Traupe H
Am J Clin Dermatol 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. PMID: 19824737
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

Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
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
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
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Francis JS
Curr Opin Pediatr 1994 Aug;6(4):447-53. doi: 10.1097/00008480-199408000-00016. PMID: 7951667

Diagnosis

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
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
Raby BA
Curr Opin Pediatr 2019 Jun;31(3):340-348. doi: 10.1097/MOP.0000000000000758. PMID: 31090575
Celleno L
Dermatol Ther 2018 Nov;31(6):e12690. Epub 2018 Oct 30 doi: 10.1111/dth.12690. PMID: 30378232
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

Therapy

Celleno L
Dermatol Ther 2018 Nov;31(6):e12690. Epub 2018 Oct 30 doi: 10.1111/dth.12690. PMID: 30378232
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
Friedman AJ, von Grote EC, Meckfessel MH
J Drugs Dermatol 2016 May 1;15(5):633-9. PMID: 27168272
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
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Prognosis

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
Hanifin JM
J Invest Dermatol 2009 Feb;129(2):320-2. Epub 2008 Aug 21 doi: 10.1038/jid.2008.252. PMID: 18719604
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
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

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
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
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
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
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

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
Lindh JD, Bradley M
Am J Clin Dermatol 2015 Oct;16(5):341-59. doi: 10.1007/s40257-015-0146-4. PMID: 26267423
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

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