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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections.</p><p>Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. TGM1 gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the cornified cell envelope.</p><p>Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Lamellar ichthyosis?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lamellar-ichthyosis\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Harlequin ichthyosis</summary><p>Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure in babies with harlequin ichthyosis. Affected infants also have feeding problems.</p><p>The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life.</p><p>Following the newborn period, the hard, skin plates are shed and the skin develops widespread scales and redness.</p><p>It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, babies with this disorder now have a better chance of living into childhood and early adulthood.</p><h3>Causes</h3><p>Variants (also known as mutations) in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) and enzymes in the outermost layer of skin (the epidermis).</p><p>Some variants in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other variants lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis before and after birth, resulting in the severe skin abnormalities characteristic of harlequin ichthyosis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/harlequin-ichthyosis\">MedlinePlus: Harlequin ichthyosis</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lamellar-ichthyosis","sourceDocuments":[{"name":"Lamellar ichthyosis","reviewed":"2010-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:48.324631+00:00","label":"Causes","pageSha256":"bbc9b65eed30ca810fc5aaa9d1c7ea8fd3405153c237b9ba44fba193e86e0464","sourceUrl":"https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lamellar-ichthyosis"},{"name":"Harlequin ichthyosis","reviewed":"2008-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:01.427426+00:00","label":"Causes","pageSha256":"a1e39d14bd54e665743430203071304036b2806fd4b7523e749ad27d1bf0772c","sourceUrl":"https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/harlequin-ichthyosis"}],"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":"Lamellar ichthyosis"},"schemaVersion":1}