Ichthyosis

Ichthyosis
Ichthyosis is characterized by rough, scaly skin.
Classification and external resources
Specialty	Dermatology
ICD-10	Q80
ICD-9-CM	757.1
DiseasesDB	6646
eMedicine	article/1198130
MeSH	D007057

Ichthyosis (plural ichthyoses) is a heterogeneous family of at least 28,^[1] generalized, mostly genetic skin disorders.

All types of ichthyosis have dry, thickened, scaly or flaky skin.^[1] In many types there is cracked skin,^[2] which is said to resemble the scales on a fish; the word ichthyosis comes from the Ancient Greek ἰχθύς (ichthys), meaning "fish."^[3]

The severity of symptoms can vary enormously, from the mildest, most common, type 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.^[4]

Types

There are many types of ichthyoses and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance and their genetic cause. Ichthyosis caused by the same gene can vary considerably in severity and symptoms. Some ichthyoses do not appear to fit exactly into any one type. Different genes can produce ichthyoses with similar symptoms. Of note, X-linked ichthyosis is associated with Kallmann syndrome (close to KAL1 gene). The most common or well-known types are as follows:^[5]

Genetic simple ichthyoses

Name	OMIM	Gene	Protein
Ichthyosis vulgaris	146700	FLG	Filaggrin
X-linked ichthyosis	308100	STS	Steroid sulfatase
Congenital ichthyosiform erythroderma, Nonbullous (nbCIE)	242100	TGM1, ALOXE3/ALOX12B	Transglutaminase 1 Arachidonate lipoxygenase 3 Arachidonate 12-lipoxygenase, 12R type
Epidermolytic hyperkeratosis (bullous ichthyosis, bCIE)	113800	KRT1, KRT10	Keratins
Harlequin-type ichthyosis	242500	ABCA12	ATP-binding cassette transporter 12
Ichthyosis bullosa of Siemens	146800	KRT2	Keratin 2A
Ichthyosis hystrix, Curth-Macklin type	146590	KRT1	Keratin 1
Hystrix-like ichthyosis with deafness	602540	GJB2	Connexin-26 (Gap junction beta-2)
Lamellar ichthyosis, type 1	242300	TGM1	Transglutaminase 1
Lamellar ichthyosis, type 2	601277	ABCA12	ATP-binding cassette transporter 12
Lamellar ichthyosis, type 3	604777	CYP4F22	Cytochrome P450, subfamily 4F, polypeptide 22
Lamellar ichthyosis, type 4	613943	LIPN	Lipase family, member N
Lamellar ichthyosis, type 5	606545	ALOXE3	Arachidonate lipoxygenase 3
Autosomal Recessive Congenital Ichthyosis^[6]	615023	CERS3	ceramide synthase 3

Genetic disease with ichthyosis

Name	OMIM	Gene	Protein
CHILD Syndrome	308050	NSHDL	NAD(P) dependent steroid dehydrogenase-like
Conradi-Hünermann syndrome	302960	EBP	Emopamil binding protein
Ichthyosis follicularis with alopecia and photophobia syndrome	308205	MBTPS2	Membrane-bound transcription factor peptidase, site 2
Keratitis-ichthyosis-deafness syndrome	148210	GJB2	Connexin-26
Netherton syndrome	256500	SPINK5	Serine peptidase inhibitor, Kazal type 5
Neutral lipid storage disease with ichthyosis	275630	ABHD5	1-acylglycerol-3-phosphate O-acyltransferase
Adult Refsum disease	266500	PHYH PEX7	Phytanoyl-CoA hydroxylase Peroxin 7
Ichthyosis and male hypogonadism	308200	?
Sjögren-Larsson syndrome	270200	ALDH3A2	Fatty acid dehydrogenase
Photosensitive trichothiodystrophy (IBIDS syndrome)	601675	ERCC2, ERCC3, GTF2H5	Transcription factor IIH components
Gaucher Disease, type 2	230900	GBA	Glucocerebrosidase

Non-genetic ichthyosis

Ichthyosis acquisita

Diagnosis

A physician often can diagnose ichthyosis by looking at the skin. A family history is very useful. In some cases, a skin biopsy is done to help to confirm the diagnosis. In some instances, 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. There is no way to prevent ichthyosis.

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 lactic acid have been shown to work exceptionally well in some cases. Application of propylene glycol is another treatment method. Retinoids are used for some conditions.

Exposure to sunlight may improve 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.^[8] Ichthyosis of varying severity is well documented in some popular breeds of domestic dogs. The most common breeds to have ichthyosis are Golden retrievers, American bulldogs, Jack Russell terriers, and Cairn terriers.^[9]

References

1 2 scalyskin.org, FAQ, Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T)
↑ thefreedictionary.com/ichthyosis citing: Gale Encyclopedia of Medicine. Copyright 2008
↑ Ichthyosis, Johns Hopkins Health Information Library
↑ Okulicz JF, Schwartz RA (2003). "Hereditary and acquired ichthyosis vulgaris". International Journal of Dermatology 42 (2): 95–8. doi:10.1046/j.1365-4362.2003.01308.x. PMID 12708996.
↑ Types of Ichthyosis, Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T.)
↑ Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length, J Invest Dermatol. 2013 Sep;133(9):2202-11.
↑ Scheinfeld, N; Libkind, M; Freilich, S (2001). "New-onset ichthyosis and diabetes in a 14-year-old.". Pediatric dermatology 18 (6): 501–3. doi:10.1046/j.1525-1470.2001.1862004.x. PMID 11841637.
↑ Sundberg, John P., Handbook of Mouse Mutations with Skin and Hair Abnormalities, Page 333, Published by CRC Press, 1994, ISBN 0-8493-8372-2
↑ Gross, Thelma Lee, Veterinary Dermatopathology, Page 174-179, Published by Blackwell Publishing, 2004, ISBN 0-632-06452-8

External links

Wikimedia Commons has media related to Ichthyosis.

Foundation for Ichthyosis Research in MONACO
Ichthyosis Overview - US National Institute of Arthritis and Musculoskeletal and Skin Diseases

Diseases of the skin and appendages by morphology

Growths

Epidermal	wart callus seborrheic keratosis acrochordon molluscum contagiosum actinic keratosis squamous-cell carcinoma basal-cell carcinoma Merkel-cell carcinoma nevus sebaceous trichoepithelioma

Pigmented	Freckles lentigo melasma nevus melanoma

Dermal and subcutaneous	epidermal inclusion cyst hemangioma dermatofibroma (benign fibrous histiocytoma) keloid lipoma neurofibroma xanthoma Kaposi's sarcoma infantile digital fibromatosis granular cell tumor leiomyoma lymphangioma circumscriptum myxoid cyst

Rashes

With
epidermal
involvement

Eczematous	contact dermatitis atopic dermatitis seborrheic dermatitis stasis dermatitis lichen simplex chronicus Darier's disease glucagonoma syndrome langerhans cell histiocytosis lichen sclerosus pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency

Scaling	psoriasis tinea (corporis cruris pedis manuum faciei) pityriasis rosea secondary syphilis mycosis fungoides systemic lupus erythematosus pityriasis rubra pilaris parapsoriasis ichthyosis

Blistering	herpes simplex herpes zoster varicella bullous impetigo acute contact dermatitis pemphigus vulgaris bullous pemphigoid dermatitis herpetiformis porphyria cutanea tarda epidermolysis bullosa simplex

Papular	scabies insect bite reactions lichen planus miliaria keratosis pilaris lichen spinulosus transient acantholytic dermatosis lichen nitidus pityriasis lichenoides et varioliformis acuta

Pustular	acne vulgaris acne rosacea folliculitis impetigo candidiasis gonococcemia dermatophyte coccidioidomycosis subcorneal pustular dermatosis

Hypopigmented	tinea versicolor vitiligo pityriasis alba postinflammatory hyperpigmentation tuberous sclerosis idiopathic guttate hypomelanosis leprosy hypopigmented mycosis fungoides

Without
epidermal
involvement

Red

Blanchable
Erythema

Generalized	drug eruptions viral exanthems toxic erythema systemic lupus erythematosus

Localized	cellulitis abscess boil erythema nodosum carcinoid syndrome fixed drug eruption

Specialized	urticaria erythema (multiforme migrans gyratum repens annulare centrifugum ab igne)

Nonblanchable
Purpura

Macular	thrombocytopenic purpura actinic/solar purpura

Papular	disseminated intravascular coagulation vasculitis

Indurated

Miscellaneous
disorders

Ulcers

Hair	telogen effluvium androgenic alopecia trichotillomania alopecia areata systemic lupus erythematosus tinea capitis loose anagen syndrome lichen planopilaris folliculitis decalvans acne keloidalis nuchae

Nail	onychomycosis psoriasis paronychia ingrown nail

Mucous membrane	Aphthous stomatitis oral candidiasis lichen planus leukoplakia pemphigus vulgaris mucous membrane pemphigoid cicatricial pemphigoid herpesvirus coxsackievirus syphilis systemic histoplasmosis squamous-cell carcinoma

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

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