Epidermolysis bullosa (EB) is a group of rare diseases that cause fragile, blistering skin. The condition can vary from mild to severe, and it often manifests shortly after birth. One specific subtype of this condition, known as epidermolysis bullosa junctionalis with pyloric atresia (EB-JPA), is a rare but severe form that not only affects the […]
Epidermolysis Bullosa Junctionalis with Pyloric Atresia (EB-PA) is a rare genetic disorder that presents a considerable challenge to affected individuals and their families. This condition, resulting from mutations in the ITGB4 gene, manifests through a combination of skin blistering and gastrointestinal issues from birth. Understanding the symptoms and the availability of genetic testing can provide […]
Epidermolysis bullosa simplex (EBS) is a genetic condition that affects the skin, causing it to be very fragile and to blister easily. This condition is primarily caused by mutations in the KRT5 gene, which plays a crucial role in the production of keratin, a protein that provides strength and resilience to the skin. Understanding the […]
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a rare genetic disorder characterized by fragile skin that easily blisters and pyloric atresia, which is a blockage of the stomach to the intestines. This condition is caused by mutations in the PLEC gene, which plays a crucial role in the integrity and function of skin cells […]
Epidermolysis bullosa simplex (EBS) is a group of rare genetic conditions characterized by fragile skin that easily blisters and tears from minor friction or trauma. Specifically, the KRT14 gene epidermolysis bullosa simplex autosomal recessive type 1 is a severe form of the disease caused by mutations in the KRT14 gene. This condition is inherited in […]
Epidermolysis bullosa simplex (EBS) represents a group of rare genetic conditions that result in easy blistering of the skin and mucous membranes in response to minor injury or friction. Among the various types of EBS, the autosomal recessive type 2, linked with mutations in the DST gene, stands out due to its unique genetic inheritance […]
Epidermolysis bullosa simplex (EBS) is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Among its various types, the Dowling-Meara type, also known as EBS Dowling-Meara, is considered one of the more severe forms. This condition is primarily caused by mutations in the KRT14 gene, which provides […]
Epidermolysis bullosa simplex (EBS) Koebner type is a genetic condition characterized by the fragility of the skin that results in blistering and erosions from minor mechanical trauma. This condition is specifically associated with mutations in the KRT14 gene, which encodes for keratin 14, a protein essential for the structural integrity of the skin. Understanding the […]
Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, joints, and blood vessels. Among the various types of EDS, one rare form is associated with mutations in the FKBP14 gene. This specific subtype is characterized by progressive kyphoscoliosis, myopathy, […]
Epidermolysis bullosa simplex (EBS) is a group of genetic skin disorders that cause the skin to become very fragile and to blister easily. Among its subtypes, the Ogna type, caused by mutations in the PLEC gene, is a particularly rare form. Understanding the symptoms and undergoing genetic testing can be crucial for individuals who suspect […]
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