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cleavage","onset_id":null,"reference":"PMID:12485428","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fc30e65c46d5114cf7471ba40fcc288618b487eb81c44145302ebfc6ff99ff94","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:619783","disease_name":"Epidermolysis bullosa, junctional 2A, intermediate","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0008066","is_excluded":false,"label":"Abnormal blistering of the skin","onset_id":null,"reference":"PMID:11810295","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa\">Junctional epidermolysis bullosa</a></li><li><a href=\"https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia\">Epidermolysis bullosa with pyloric atresia</a></li><li><a href=\"https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome\">Laryngo-onycho-cutaneous syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause JEB generalized severe or JEB generalized intermediate. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa.</p><p>The LAMA3, LAMB3, and LAMC2 genes each provide instructions for making one part (subunit) of a protein called laminin 332. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in any of the three laminin 332 genes lead to the production of a defective or nonfunctional version of this protein. Without functional laminin 332, cells in the epidermis are fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters.</p><p>The COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type XVII collagen helps attach the epidermis to underlying layers of skin, making the skin strong and flexible. Mutations in the COL17A1 gene prevent the normal formation of collagen XVII. As a result, the skin is less resistant to friction and minor trauma and blisters easily. Most COL17A1 gene mutations cause JEB generalized intermediate, although a few individuals with mutations in this gene have had the more serious JEB generalized severe.</p><p>Very rarely, junctional epidermolysis bullosa is caused by mutations in another gene that provides instructions for making a different protein that helps attach the top layer of skin to underlying layers.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Junctional epidermolysis bullosa?"},{"bodyHtml":"<p>JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.</p><p>Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life.</p><p>The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Epidermolysis bullosa with pyloric atresia</summary><p>Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.</p><p>People with EB-PA are also born with pyloric atresia, which is a blockage (obstruction) of the lower part of the stomach (the pylorus). This obstruction prevents food from emptying out of the stomach into the intestine. Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. Pyloric atresia is life-threatening and must be repaired with surgery soon after birth.</p><p>Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Some affected individuals are also born with malformations of the urinary tract, including the kidneys and bladder.</p><p>Because the signs and symptoms of EB-PA are so severe, many infants with this condition do not survive beyond the first year of life. In those who survive, the condition may improve with time; some affected individuals have little or no blistering later in life. However, many affected individuals who live past infancy experience severe health problems, including blistering and the formation of red, bumpy patches called granulation tissue. Granulation tissue most often forms on the skin around the mouth, nose, fingers, and toes. It can also build up in the airway, leading to difficulty breathing.</p><h3>Causes</h3><p>EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes. These genes provide instructions for making proteins with critical roles in the skin and digestive tract.</p><p>ITGB4 gene mutations are the most common cause of EB-PA; these mutations are responsible for about 80 percent of all cases. ITGA6 gene mutations cause about 5 percent of cases. The proteins produced from the ITGA6 and ITGB4 genes join to form a protein known as α6β4 integrin. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in either the ITGA6 gene or the ITGB4 gene lead to the production of a defective or nonfunctional version of α6β4 integrin, or prevent cells from making any of this protein. A shortage of functional α6β4 integrin causes cells in the epidermis to be fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters.</p><p>About 15 percent of all cases of EB-PA result from mutations in the PLEC gene. This gene provides instructions for making a protein called plectin. Like α6β4 integrin, plectin helps attach the epidermis to underlying layers of skin. Some PLEC gene mutations prevent the cell from making any functional plectin, while other mutations result in an abnormal form of the protein. When plectin is altered or missing, the skin is less resistant to friction and minor trauma and blisters easily.</p><p>Researchers are working to determine how mutations in the ITGA6, ITGB4, and PLEC genes lead to pyloric atresia in people with EB-PA. Studies suggest that these genes are important for the normal development of the digestive tract.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia\">MedlinePlus: Epidermolysis bullosa with pyloric atresia</a></p></details><details class=\"deep-dive\"><summary>Laryngo-onycho-cutaneous syndrome</summary><p>Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and skin (cutaneous). Many of the condition&#x27;s signs and symptoms are related to the abnormal growth of granulation tissue in different parts of the body. This red, bumpy tissue is normally produced during wound healing and is usually replaced by skin cells as healing continues. However, in people with LOC syndrome, this tissue grows even when there is no major injury.</p><p>One of the first symptoms in infants with LOC syndrome is a hoarse cry due to ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess granulation tissue can also block the airways, leading to life-threatening breathing problems; as a result many affected individuals do not survive past childhood.</p><p>In LOC syndrome, granulation tissue also grows in the eyes, specifically the conjunctiva, which are the moist tissues that line the eyelids and the white part of the eyes. Affected individuals often have impairment or complete loss of vision due to the tissue overgrowth.</p><p>Another common feature of LOC syndrome is missing patches of skin (cutaneous erosions). The erosions heal slowly and may become infected. People with LOC syndrome can also have malformed nails and small, abnormal teeth. The hard, white material that forms the protective outer layer of each tooth (enamel) is thin, which contributes to frequent cavities.</p><p>LOC syndrome is typically considered a subtype of another skin condition called junctional epidermolysis bullosa, which is characterized by fragile skin that blisters easily. While individuals with junctional epidermolysis bullosa can have some of the features of LOC syndrome, they do not usually have overgrowth of granulation tissue in the conjunctiva.</p><h3>Causes</h3><p>LOC syndrome is caused by mutations in the LAMA3 gene, which provides instructions for making one part (subunit) of a protein called laminin 332. This protein is made up of three subunits, called alpha, beta, and gamma. The LAMA3 gene carries instructions for the alpha subunit; the beta and gamma subunits are produced from other genes.</p><p>The laminin 332 protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Studies suggest that laminin 332 is also involved in wound healing. Additionally, researchers have proposed roles for laminin 332 in the clear outer covering of the eye (the cornea) and in the development of tooth enamel.</p><p>The mutations involved in LOC syndrome alter the structure of one version of the alpha subunit of laminin 332 (called alpha-3a). Laminins made with the altered subunit cannot effectively attach the epidermis to underlying layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the cutaneous erosions and overgrowth of granulation tissue that are characteristic of LOC syndrome. The inability of laminin 332 to perform its other functions leads to the nail and tooth abnormalities that occur in this condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome\">MedlinePlus: Laryngo-onycho-cutaneous syndrome</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"junctional-epidermolysis-bullosa","sourceDocuments":[{"name":"Junctional epidermolysis bullosa","reviewed":"2009-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:36.601538+00:00","label":"Causes","pageSha256":"895382be2ff88207e52734ffe699110b71c306f2091ca0bf4b792f20cf3d75df","sourceUrl":"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa"},{"name":"Epidermolysis bullosa with pyloric atresia","reviewed":"2009-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:12.193738+00:00","label":"Causes","pageSha256":"0f746b91d12da7ceeea3c035ebd1385874fcac427ded2c5820eceab02860f55b","sourceUrl":"https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia"},{"name":"Laryngo-onycho-cutaneous syndrome","reviewed":"2014-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:50.029411+00:00","label":"Causes","pageSha256":"457c73c110f4477418648560b9e2cbea744e45688faff516c0f6a89791a7843d","sourceUrl":"https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/laryngo-onycho-cutaneous-syndrome"}],"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":"Junctional epidermolysis bullosa"},"schemaVersion":1}