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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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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Dry skin

MedGen UID:: 56250
•Concept ID:: C0151908
•: Sign or Symptom

Skin characterized by the lack of natural or normal moisture.

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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.

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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.

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Abnormality of limbs
- Palmar hyperlinearity
Abnormality of the immune system
- Asthma
- Eczematoid dermatitis
Abnormality of the integument

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIchthyosis vulgaris

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of skin
        Genodermatosis
        Ichthyosis 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

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M
Am J Pathol 2011 May;178(5):2252-63. doi: 10.1016/j.ajpath.2011.01.053. PMID: 21514438 Free PMC Article

Are atopy and palm-sole hyperlinearity clinical tools in the differential diagnosis between ichthyosis vulgaris and X-linked ichthyosis?

Cuevas-Covarrubias SA, Valdés-Flores M, Orozco Orozco E, Díaz-Zagoya JC, Kofman-Alfaro SH
J Dermatol 1998 Aug;25(8):556-7. doi: 10.1111/j.1346-8138.1998.tb02456.x. PMID: 9769606

See all (18)

Recent clinical studies

Etiology

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.

Alakloby OM, Almuqarrab F, Zschocke J, Schmuth M, Abdulkareem A, Alnutaifi K, Borgio F, Gruber R, Hennies HC
BMC Med Genomics 2023 Oct 23;16(1):256. doi: 10.1186/s12920-023-01700-x. PMID: 37872553 Free PMC Article

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

The filaggrin story: novel insights into skin-barrier function and disease.

McGrath JA, Uitto J
Trends Mol Med 2008 Jan;14(1):20-7. Epub 2007 Dec 18 doi: 10.1016/j.molmed.2007.10.006. PMID: 18068483

Hypothesis: from epidermal barrier dysfunction to atopic disorders.

Taïeb A
Contact Dermatitis 1999 Oct;41(4):177-80. doi: 10.1111/j.1600-0536.1999.tb06125.x. PMID: 10515093

Atopic dermatitis and ichthyosis vulgaris.

Rabinowitz LG, Esterly NB
Pediatr Rev 1994 Jun;15(6):220-6; quiz 226. doi: 10.1542/pir.15-6-220. PMID: 8066010

See all (107)

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

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

Hereditary and acquired ichthyosis vulgaris.

Okulicz JF, Schwartz RA
Int J Dermatol 2003 Feb;42(2):95-8. doi: 10.1046/j.1365-4362.2003.01308.x. PMID: 12708996

All about ichthyosis.

Shwayder T, Ott F
Pediatr Clin North Am 1991 Aug;38(4):835-57. doi: 10.1016/s0031-3955(16)38156-1. PMID: 1870908

See all (104)

Therapy

Disseminated tinea incognita in a patient with ichthyosis vulgaris and eczema.

Steele L, Hong A, Balogh P, O'Toole EA, Harwood CA, Maruthappu T
Clin Exp Dermatol 2021 Jan;46(1):210-212. Epub 2020 Aug 26 doi: 10.1111/ced.14406. PMID: 32845026

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

Squamous-cell carcinoma in situ.

Rothman LR, Mir A, Meehan SA, Mitchell WL
Dermatol Online J 2015 Dec 16;21(12) PMID: 26990329

Trachyonychia: case report and review of the literature.

Blanco FP, Scher RK
J Drugs Dermatol 2006 May;5(5):469-72. PMID: 16703788

Dermacase. Ichthyosis vulgaris.

Adams SP
Can Fam Physician 1998 Dec;44:2645, 2652. PMID: 9870115 Free PMC Article

See all (52)

Prognosis

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

Trachyonychia: case report and review of the literature.

Blanco FP, Scher RK
J Drugs Dermatol 2006 May;5(5):469-72. PMID: 16703788

Duchenne muscular dystrophy-rhabdomyosarcoma, ichthyosis vulgaris/acute monoblastic leukemia: association of rare genetic disorders and childhood malignant diseases.

Jakab Z, Szegedi I, Balogh E, Kiss C, Oláh E
Med Pediatr Oncol 2002 Jul;39(1):66-8. doi: 10.1002/mpo.10043. PMID: 12116087

Clinico-epidemiological profile of ichthyosis in south Indian patients.

Baruah MC, Oeducoumar P, Garg BR, Kumar V
J Dermatol 1995 Jul;22(7):486-91. doi: 10.1111/j.1346-8138.1995.tb03429.x. PMID: 7560438

Inherited ichthyosiform dermatoses in childhood.

Gianotti F
J Dermatol 1980 Feb;7(1):1-9. doi: 10.1111/j.1346-8138.1980.tb01936.x. PMID: 15462069

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Clinical prediction guides

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: 31121896 Free 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: 23301728 Free PMC Article

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

Clinical and histological features of dry skin in atopic dermatitis.

Uehara M
Acta Derm Venereol Suppl (Stockh) 1985;114:82-6. doi: 10.2340/000155551148286. PMID: 3873772

The morphologic characteristics of dry skin in atopic dermatitis.

Uehara M, Miyauchi H
Arch Dermatol 1984 Sep;120(9):1186-90. PMID: 6476856

See all (75)

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

See all (3)

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Ichthyosis vulgaris

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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