| Ichthyosis vulgaris |
| Classification and external resources |
Ichthyosis vulgaris #1 (top-left) |
| ICD-10 |
Q80.0 |
| ICD-9 |
757.1 |
| OMIM |
146700 |
| DiseasesDB |
6647 |
| MedlinePlus |
001451 |
| eMedicine |
derm/678 |
| MeSH |
D016112 |
Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis,"[1] and "Ichthyosis simplex"[1]) is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosis,[2]:486 affecting around 1 in 250 people.[3] For this reason it is known as common ichthyosis. It is usually an autosomal dominant inherited disease (often associated with filaggrin), although a rare non-heritable version called acquired ichthyosis exists.[4]:560
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Contents
- 1 Presentation
- 2 Associated conditions
- 3 Genetics
- 4 See also
- 5 References
- 6 External links
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Presentation
The symptoms of the inherited form of ichthyosis vulgaris are not usually present at birth but generally develop between 3 months and 5 years of age.[5][6] The symptoms will often improve with age, although they may grow more severe again in old age.[7]
The condition is not life-threatening; the impact on the patient, if it's a mild case, is generally restricted to mild itching and the social impact of having skin with an unusual appearance. People afflicted with mild cases have symptoms that include scaly patches on the shins, fine white scales on the forearms and upper arms, and rough palms. People with the mildest cases have no symptoms other than faint, tell-tale "mosaic lines" between the Achilles tendons and the calf muscles.
Severe cases, although rare, do exist. Severe cases entail the build up of scales everywhere, with areas of the body that have a concentration of sweat glands being least affected. Areas where the skin rubs against each other, such as the armpits, the groin, and the "folded" areas of the elbow and knees, are less affected. When the build up of scales is bad, the person with a severe case suffers from "prickly itch" when he or she needs to sweat but cannot because of the scales. Various topical treatments are available to "exfoliate" the scales. These include lotions that contain alpha-hydroxy acids.
Associated conditions
Many people with severe ichthyosis have problems sweating due to the build up of scales on the skin. This may lead to problems such as "prickly itch" or problems associated with overheating. The majority of people with vulgaris can sweat at least a little. Paradoxically this means most would be more comfortable living in a hot and humid climate. Sweating helps to shed scales which improves the appearance of the skin and prevents "prickly itch".
The dry skin will crack on digits or extremities and create bloody cuts. Skin is painful when inflamed and/or tight.
For children and adolescents: psychological precautions may include inconsistent self-image, mood fluctuates due to cyclical outbreaks, prone to addiction, may socially withdraw and/or separate when skin is noticeably infected, pre-occupation with appearance.
Strong air-conditioning and excessive consumption of alcohol can also increase the build up of scales.
Over 50% of people with ichthyosis vulgaris suffer from some type of atopic disease such as allergies, eczema, or asthma.[8] Another common condition associated with ichthyosis vulgaris is keratosis pilaris (small bumps mainly appearing on the back of the upper arms).[6]
Genetics
Ichthyosis vulgaris is one of the most common genetic disorders caused by a single gene.[5] The disorder is believed to be caused by mutations to the gene encoding profilaggrin (a protein which is converted to filaggrin which plays a vital role in the structure of the skin).[9] Around 10% of the population have some detrimental mutations to the profilaggrin gene that is also linked to atopic dermatitis (another skin disorder that is often present with ichthyosis vulgaris).[6] The exact mutation is only known for some cases of ichthyosis vulgaris.[5]
It is generally considered to be an autosomal dominant condition, i.e., a single genetic mutation causes the disease and an affected person has a 50% chance of passing the condition on to their child. There is some research indicating it may be semi-dominant. This means that a single mutation would cause a mild case of ichthyosis vulgaris and mutations to both copies of the gene would produce a more severe case.[9]
See also
- Harlequin-type ichthyosis
- List of cutaneous conditions
References
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ www.ichthyosis.com
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ a b c Ichthyosis vulgaris, OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University
- ^ a b c Ichthyosis vulgaris, eMedicine.com
- ^ "Ichthyosis vulgaris", MedlinePlus Medical Encyclopedia.
- ^ Ichthyosis vulgaris, Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.)
- ^ a b Ichthyosis Research (2006), Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T)
External links
- DermAtlas 28
- Photographs from Ichthyosis Information
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Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)
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| Genodermatosis |
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Congenital ichthyosis/
erythrokeratodermia
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AD
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Ichthyosis vulgaris
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AR
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Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Lamellar ichthyosis (Harlequin type ichthyosis)
Netherton syndrome · Zunich–Kaye syndrome · Sjögren–Larsson syndrome
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XR
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X-linked ichthyosis
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Ungrouped
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Ichthyosis bullosa of Siemens · Ichthyosis follicularis · Ichthyosis prematurity syndrome · Ichthyosis–sclerosing cholangitis syndrome · Nonbullous congenital ichthyosiform erythroderma · Ichthyosis linearis circumflexa · Ichthyosis hystrix
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EB
and related
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EBS (EBS-K, EBS-WC, EBS-DM, EBS-OG, EBS-MD, EBS-MP)
JEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)
DEB (DDEB, RDEB)
related: Costello syndrome · Kindler syndrome · Laryngoonychocutaneous syndrome · Skin fragility syndrome ·
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Ectodermal dysplasia
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Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay–Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis–van Creveld syndrome · Rapp–Hodgkin syndrome/Hay–Wells syndrome
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Elastic/Connective
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Ehlers–Danlos syndrome · Cutis laxa (Gerodermia osteodysplastica) · Popliteal pterygium syndrome · Pseudoxanthoma elasticum · Van Der Woude syndrome
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Hyperkeratosis/
keratinopathy
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PPK
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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)
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Other
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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
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Other
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cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
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Developmental
anomalies |
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Midline
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Dermoid cyst · Encephalocele · Nasal glioma · PHACE association · Sinus pericranii
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Nevus
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Capillary hemangioma · Port-wine stain (Nevus flammeus nuchae)
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Other/ungrouped
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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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noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon
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proc, drug (D2/3/4/5/8/11)
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