ICTIOSIS PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. Affected infants born encased in a collodion membrane taut, shiny, translucent membrane appearing as an extra skin layer with armorlike plates, distributed throughout the body, which severely restrict movement.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase.

Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message.

Disease definition Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis.

Additional information Further information on this disease Classification s 2 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 1. Health care resources for this disease Expert centres Diagnostic tests 7 Patient organisations 41 Orphan designation s and orphan drug s 1.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family.

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Ichthyosis

Ichthyosis vulgaris develops when skin cells fail to shed normally and instead accumulate in thick, dry scales. People with darker skin tend to have darker colored scales, as shown here. Ichthyosis vulgaris ik-thee-O-sis vul-GAY-ris is an inherited skin disorder in which dead skin cells accumulate in thick, dry scales on your skin's surface. The scales of ichthyosis vulgaris, sometimes called fish scale disease or fish skin disease, can be present at birth, but usually first appear during early childhood. Sometimes, mild cases of ichthyosis vulgaris go undiagnosed because they're mistaken for extremely dry skin. Most cases of ichthyosis vulgaris are mild, but some are severe. Sometimes other skin diseases, such as the allergic skin condition eczema, are associated with ichthyosis vulgaris.

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Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. 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. Many types of ichthyoses exist, 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.

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