Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":14,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":14,"sourceGroups":{"omim":0,"orphanet":0,"published":14}},"features":[{"hpoId":"HP:0001217","label":"Clubbing","primary":false},{"hpoId":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","primary":false},{"hpoId":"HP:0004325","label":"Decreased body weight","primary":false},{"hpoId":"HP:0000656","label":"Ectropion","primary":false},{"hpoId":"HP:0001019","label":"Erythroderma","primary":false},{"hpoId":"HP:0000998","label":"Hypertrichosis","primary":false},{"hpoId":"HP:0002557","label":"Hypoplastic nipples","primary":false},{"hpoId":"HP:0008064","label":"Ichthyosis","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000972","label":"Palmoplantar hyperkeratosis","primary":false},{"hpoId":"HP:0000989","label":"Pruritus","primary":false},{"hpoId":"HP:0040189","label":"Scaling skin","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false}],"ledeHtml":"Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time.","mondoId":"MONDO:0012208","records":[{"frequencyKind":"count","key":"0c0b9e1f6f6b7c008377025060071a64d4a8c5701f3d8834aa795de970eed5e9","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:609165","disease_name":"Erythroderma, ichthyosiform, congenital reticular","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0008064","is_excluded":false,"label":"Ichthyosis","onset_id":null,"reference":"PMID:25210931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0d50925733ab87fc5670a84203f9247402e714f5942324a4cc368c55dc714e84","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:609165","disease_name":"Erythroderma, ichthyosiform, congenital reticular","evidence":"PCS","frequency_raw":"7/7","hpo_id":"HP:0040189","is_excluded":false,"label":"Scaling 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reticular","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0004325","is_excluded":false,"label":"Decreased body weight","onset_id":null,"reference":"PMID:25210931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"89ada6359a00c7ae879d702b58089c0414f506d2f0e0848bd0dc607bdfa2fba9","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:609165","disease_name":"Erythroderma, ichthyosiform, congenital reticular","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:25210931","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a17404569007c088854da7f6f4a6d4d9a1fdda3fca54d58fe005b21c35fd27bc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:609165","disease_name":"Erythroderma, ichthyosiform, congenital 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reticular","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0001019","is_excluded":false,"label":"Erythroderma","onset_id":"HP:0003577","reference":"PMID:25210931","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Mutations in the KRT10 gene cause ichthyosis with confetti. This gene provides instructions for making a protein called keratin 10, which is found in cells called keratinocytes in the outer layer of the skin (the epidermis). In the fluid-filled space inside these cells (the cytoplasm), this tough, fibrous protein attaches to another keratin protein (produced from a different gene) to form fibers called intermediate filaments. These filaments assemble into strong networks that provide strength and resiliency to the skin.
KRT10 gene mutations associated with ichthyosis with confetti alter the keratin 10 protein. The altered protein is abnormally transported to the nucleus of cells, where it cannot form networks of intermediate filaments. Loss of these networks disrupts the epidermis, contributing to the red, scaly skin. However, in some abnormal cells, the mutated gene corrects itself through a complex process by which genetic material is exchanged between chromosomes. As a result, normal keratin 10 protein is produced and remains in the cytoplasm. The cell becomes normal and, as it continues to grow and divide, forms small patches of normal skin that give ichthyosis with confetti its name.
","key":"forms","title":"What causes Ichthyosis with confetti?"},{"bodyHtml":"In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"ichthyosis-with-confetti","sourceDocuments":[{"name":"Ichthyosis with confetti","reviewed":"2014-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:24.208014+00:00","label":"Causes","pageSha256":"22e062ff246c7b80d6ca22d5f2f5a6e73a4bc273c1635ba7ff0751b8f44dcd91","sourceUrl":"https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Ichthyosis with confetti"},"schemaVersion":1}