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Ichthyosis

MONDO:0019269

Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.

Also known as: DOC, disorder of cornification, fish scale disease, fish skin disease, ichthyosis, ichthyosis (disease), non-syndromic ichthyosis

40 clinical trials for this condition and its sub-types, 13 tagged with Ichthyosis itself.

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Where it sits in the disease tree

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Part of

↑ Epidermal disease (128)

Sub-types of Ichthyosis

Most studied deeper sub-types

Superficial epidermolytic ichthyosis (6) Autosomal recessive congenital ichthyosis 1 (2) Autosomal recessive congenital ichthyosis 6 (1) Epidermolytic ichthyosis (1) Acral peeling skin syndrome (0) Acral self-healing collodion baby (0) Annular epidermolytic ichthyosis (0) Autosomal dominant epidermolytic ichthyosis (0) Autosomal dominant ichthyosis vulgaris (0) Autosomal recessive congenital ichthyosis 10 (0) Autosomal recessive congenital ichthyosis 11 (0) Autosomal recessive congenital ichthyosis 2 (0) Autosomal recessive congenital ichthyosis 3 (0) Autosomal recessive congenital ichthyosis 4A (0) Autosomal recessive congenital ichthyosis 4B (0) Autosomal recessive congenital ichthyosis 5 (0) Autosomal recessive congenital ichthyosis 7 (0) Autosomal recessive congenital ichthyosis 8 (0) Autosomal recessive congenital ichthyosis 9 (0) Autosomal recessive epidermolytic ichthyosis (0)
Including sub-types (40) Tagged with Ichthyosis (13)
Trials to join now! 10 Not yet recruiting 8 Not yet finished but already full! 4 Completed 14 Terminated 4
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