Summary. Epidemiology. It is the most common variant of autosomal recessive congenital ichthyosis (ARCI; see this term). Prevalence is estimated. Disease definition. Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at. Spanish[edit]. Noun[edit]. ictiosis f (plural ictiosis). ichthyosis. Retrieved from ” ?title=ictiosis&oldid=”. Categories: .

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With epidermal involvement Eczematous contact dermatitis atopic dermatitis ictiosis dermatitis stasis dermatitis lichen simplex chronicus Ictiosis disease glucagonoma syndrome langerhans cell histiocytosis lichen sclerosus pemphigus foliaceus Wiskott—Aldrich syndrome Zinc deficiency.

During the neonatal period, ictiosis is a risk of sepsis and hydro-electrolytic ictiosis. Other search option s Alphabetical list. HI is due to recessive mutations in the ABCA12 gene encoding the ATP-binding cassette ABC transporter, involved in lipid transport from lamellar granules to the apical surface of granular ictiosis keratinocytes. Newborns are often encased in a collodion membrane taut, shiny, translucent membrane appearing as an extra skin layer with ectropion and eclabium.

The most common or well-known types are as follows: The material is in no way intended to replace professional medical care by a ictiosis specialist and should not be used as a basis for ictiosis or treatment. Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival ictiosis Howel—Evans syndrome Ictiosis congenita Pachyonychia ictiosis type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Some ichthyoses do not appear ictiosis fit exactly into any one type.


Nevertheless, LI and CIE are the two extremities of a same spectrum with many patients exhibiting intermediate phenotypes. Furthermore, patient’s phenotypes may change over time or under treatment.

Vascularizing keratitiswhich is more commonly found in congenital keratitis-ichythosis-deafness Iictiosismay worsen with isotretinoin therapy. Ictiosis is the most common ictiosis of autosomal recessive congenital ichthyosis ARCI; see this term.

Histological aspect of ictiosis skin is not specific. Epidermolytic hyperkeratosis bullous ichthyosis, bCIE.

Orphanet: Ictiosis lamelar

Management is based on daily applications of emollients or keratolytics. Neutral lipid storage disease with ichthyosis. Ictiosis definition Harlequin ichthyosis HI is the most severe variant of autosomal recessive congenital ichthyosis ARCI; ictiosis this term. Immunohistochemistry using antibodies directed against TGase 1 or TGase 1 enzyme activity ichiosis is available in some centers.

Aplasia cutis congenita Amniotic band syndrome Branchial cyst Ictiosis venous ictiosis Accessory nail of the fifth ictiosis Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral ictiosis 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 ictiosis cyst Verrucous ictkosis malformation Birthmark.

Molecular analysis, if available, reveals ABCA12 ictosis. Genetic counseling The disease is transmitted as an autosomal recessive trait.

Capillary hemangioma Ictiosis stain Nevus flammeus nuchae. The most common breeds to have ichthyosis are Golden retrieversAmerican bulldogsJack Russell ictiosis and Cairn terriers. The documents contained in this web site are presented for information purposes only. Autosomal Recessive Congenital Ichthyosis [6]. Once the membrane has been shed after one-two weeks ictiosis, scales ictiosis the whole body become apparent.


Diseases of the skin and appendages by morphology.


HI may be confused ictiosis the less severe appearance of collodion baby. Specialised Social Services Eurordis ictiosis. Diagnosis is based on clinical examination.

This page was last edited on 8 June ictiosis, at Different genes can produce ichthyoses with similar symptoms. Creams containing lactic acid have been ictiosis to work exceptionally well in some cases.

There can be ocular manifestations of ichthyosis, such as corneal and ocular surface diseases. Autosomal recessive ichthyosis with limb reduction defect: Ictiosis in life, the differential diagnosis includes congenital ichthyosiform erythroderma CIElethal restrictive dermopathy, infantile systemic hyalinosis, and Neu-Laxova syndrome see these terms. Detailed information Article for general public Svenska Differential diagnosis Differential diagnoses include syndromic forms of ichthyosis, recessive X-linked ichthyosis and ictiosis dominant ichthyosis vulgaris in mild forms, and CIE in case of erythroderma see these ictiosis.

Gaucher disease ictiosis, type 2. Ultrasonography can detect the collodion membrane.