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Ichthyosis describes a heterogeneous group of disorders of cornification characterized by visible scaling and hyperkeratosis affecting most or all of the skin. The condition encompasses both inherited and acquired forms. Inherited ichthyoses represent a diverse category of Mendelian disorders of cornification attributable to variants in genes involved in keratinocyte differentiation and epidermal barrier function. Acquired forms arise in association with various systemic conditions, including autoimmune, inflammatory, metabolic, endocrine, or infectious diseases, as well as malignancies. Population prevalence data are not available in this packet. Recognized subtypes include inherited ichthyosis, acquired ichthyosis, and ichthyosis follicularis.
The defining clinical feature across ichthyosis subtypes is visible scaling and hyperkeratosis of the skin, which may involve most or all body surface areas. The texture, distribution, and severity of scaling vary considerably across different inherited and acquired forms. In acquired presentations, the skin manifestations arise in the context of an underlying systemic condition. The degree of involvement and any associated functional impact differ across the heterogeneous subtypes encompassed by this disease category.
Inherited forms of ichthyosis arise from variants in genes critical to keratinocyte differentiation and epidermal barrier function. This group is etiologically heterogeneous, with multiple distinct genes implicated across different subtypes as described in the disease definition. Specific gene identities are not detailed in the known_genes field of this packet. Formal inheritance patterns are not specified in this packet. Acquired ichthyosis is associated with systemic conditions including autoimmune, inflammatory, metabolic, endocrine, or infectious diseases, and in some cases malignancies, as stated in the disease definition.
Evaluation of ichthyosis involves assessment of the clinical pattern of skin scaling, personal and family history, and determination of whether the presentation represents an inherited or acquired form. Specific diagnostic criteria and molecular genetic testing approaches are not detailed in the fields available in this packet.
No FDA-approved pharmacologic treatments are certified in this packet for ichthyosis. Specific treatment approaches are not detailed in the fields available in this packet. Management differs across inherited and acquired subtypes. The Foundation for Ichthyosis and Related Skin Types maintains a patient registry and provides support resources for individuals and families affected by this condition.
12 trials found
Prognosis information is not certified in this packet. Clinical outcomes vary across the inherited and acquired subtypes within this heterogeneous disease category, reflecting the diversity of underlying etiologies and the extent of skin and systemic involvement.
Several certified active trial records are present for ichthyosis, spanning inherited and acquired forms. Research areas include topical and pharmacologic interventions targeting epidermal barrier function, natural history studies, and investigations of genetic mechanisms across recognized subtypes. Active clinical trials for this condition are listed on ClinicalTrials.gov.
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:10 AM UTC
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