Ichthyosis

Source: Wikipedia, the free encyclopedia.
Ichthyosis
Other namesIchthyoses
Ichthyosis is characterized by generalised, scaly skin.
SpecialtyDermatology

Ichthyosis (also named fish scale disease)

X-linked).[3] Ichthyosis comes from the Greek ἰχθύς ichthys, literally 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis.[4]

The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases.[5]

Types

Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance.[6] For example, non-syndromic ichthyoses that are inherited recessively come under the umbrella term autosomal recessive congenital ichthyosis (ARCI).

Ichthyosis caused by mutations in the same gene can vary considerably in severity and symptoms. Some ichthyoses do not appear to fit exactly into any one type while mutations in different genes can produce ichthyoses with similar symptoms. Of note, X-linked ichthyosis is associated with

KAL1 gene). The most common or well-known types are:[6]

Non-syndromic ichthyosis

Name OMIM Mode Of Inheritance Gene(s)
Ichthyosis vulgaris 146700 Autosomal semi-dominant
FLG
X-linked recessive ichthyosis
 308100 X-linked recessive
STS
Harlequin ichthyosis 242500 Autosomal recessive ABCA12
Congenital ichthyosiform erythoderma 242100 Autosomal recessive
TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22
, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Lamellar ichthyosis 242300 Autosomal recessive
TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22
, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Self improving congenital ichthyosis 242300 Autosomal recessive
TGM1, ALOX12B, ALOXE3
Bathing suit ichthyosis 242300 Autosomal recessive
TGMI1
Epidermolytic ichthyosis 113800 Autosomal dominant KRT1, KRT10
Superficial epidermolytic ichthyosis 146800 Autosomal dominant
KRT2
Annular epidermolytic ichthyosis 607602 Autosomal dominant KRT1, KRT10
Ichthyosis Curth-Macklin 146590 Autosomal dominant KRT1
Autosomal recessive epidermolytic ichthyosis 113800 Autosomal recessive KRT10
Congenital reticular ichthyosiform erythroderma
 609165 Autosomal dominant KRT1, KRT10
Epidermolytic nevi 113800 Postzygotic mosaicism KRT1, KRT10
Loricrin keratoderma 604117 Autosomal dominant LOR
Erythrokeratodermia variabilis 133200 Autosomal dominant GJB3, GJB4
Peeling skin disease 270300 Autosomal recessive CDSN
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 601952 Autosomal recessive POMP

Syndromic ichthyosis

Name OMIM Mode Of Inheritance Gene (s)
X-linked recessive ichthyosis syndromic forms 308700 300500 300533
X-linked recessive
 STS
Ichthyosis follicularis with alopecia and photophobia syndrome 308205
X-linked recessive
MBTPS2
Conradi-Hunermann-Happle syndrome 302960
X-linked dominant
 EBP
Netherton syndrome 256500
Autosomal recessive
SPINK5
Ichthyosis-hypotrichosis syndrome 610765
Autosomal recessive
 ST14
Trichothiodystrophy 601675
Autosomal recessive
 ERCC2, ERCC3, GTF2H5
Trichothiodystrophy (non-congenital forms) 275550 211390 601675
Autosomal recessive
 C7Orf11, TTDN1
Sjögren-Larsson syndrome 270200
Autosomal recessive
ALDH3A2
Refsum's disease 266500
Autosomal recessive
PEX7
Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome 609528
Autosomal recessive
 SNAP29
Arthrogryposis, renal dysfunction, cholestasis syndrome 208085
Autosomal recessive
 VPS33B
Keratitis-ichthyosis-deafness syndrome 602450 148210
Autosomal dominant
 GJB2
Neutral lipid storage disease with ichthyosis 275630
Autosomal recessive
 ABHD5
Ichthyosis prematurity syndrome 608649
Autosomal recessive
SLC27A4
Neu–Laxova syndrome 256520 616038
autosomal recessive
PHGDH , PSAT1 and PSPH

Non-genetic ichthyosis

Diagnosis

A physician often can diagnose ichthyosis by looking at the skin. A family history is also useful in determining the mode of inheritance. In some cases, a skin biopsy is done to help to confirm the diagnosis while in others genetic testing may be helpful in making a diagnosis. Diabetes has not been definitively linked to acquired ichthyosis or ichthyosis vulgaris; however, there are case reports associating new onset ichthyosis with diabetes.[7]

Ichthyosis has been found to be more common in Native American, Asian, Mongolian groups.[citation needed] There is no way to prevent ichthyosis.

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms, one of which is limb reduction defect known as CHILD syndrome, a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. One case with symptoms matching CHILD syndrome has been described as having a likely-different cause.[8]

Treatments

Treatments for ichthyosis often take the form of topical application of creams and

emollient oils, in an attempt to hydrate the skin. Creams containing a high percentage of urea or lactic acid have been shown to work exceptionally well in some cases.[9] Application of propylene glycol is another treatment method. Retinoids
are used for some conditions.

Exposure to sunlight may improve[citation needed] or worsen the condition. In some cases, excess dead skin sloughs off much better from wet tanned skin after bathing or a swim, although the dry skin might be preferable to the damaging effects of sun exposure.

There can be ocular manifestations of ichthyosis, such as corneal and ocular surface diseases. Vascularizing keratitis, which is more commonly found in congenital keratitis-ichythosis-deafness (KID), may worsen with isotretinoin therapy.

Other animals

Ichthyosis or ichthyosis-like disorders exist for several types of animals, including cattle, chickens, llamas, mice, and dogs.

Cairn terriers.[11]

See also

References

  1. PMC 8594618
    .
  2. ^ "Frequently Asked Questions". Foundation for Ichthyosis & Related Skin Types (FIRST). Retrieved 12 July 2017.
  3. ^ thefreedictionary.com/ichthyosis citing: Gale Encyclopedia of Medicine. Copyright 2008
  4. ^ "Ichthyosis". Health Information Library. Johns Hopkins Medicine. Archived from the original on 2 February 2009.
  5. S2CID 20029085
    .
  6. ^
    S2CID 27585177
    .
  7. S2CID 22440127
    .
  8. ^ Shawky, R. M., Elsayed, S. M., & Amgad, H. (2016). Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome. Egyptian Journal of Medical Human Genetics, 17(3), 255-258.
  9. S2CID 29854858
    .
  10. ISBN 0-8493-8372-2
  11. ISBN 0-632-06452-8

External links

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