Epidermolysis Bullosa Dystrophica (EBD) is a rare genetic disorder that affects the skin and sometimes the mucous membranes. The condition is characterized by the presence of fragile skin that blisters and tears from minor friction or trauma. This condition is primarily caused by mutations in the COL7A1 gene, which plays a crucial role in the […]
Epidermolysis bullosa dystrophica (EBD) is a rare genetic disorder that causes the skin to be very fragile and to blister easily. Among the genes associated with this condition, the MMP1 gene has been identified as a significant modifier, especially in its autosomal recessive form. Understanding the symptoms and the genetic aspects of this condition is […]
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 […]
Ehlers-Danlos Syndrome (EDS) encompasses a group of genetic connective tissue disorders, each varying in symptoms and severity. Among these, the Vascular Ehlers-Danlos Syndrome, also known as Type 4 EDS, caused by mutations in the COL3A1 gene, is one of the most severe forms. Understanding the symptoms and genetic basis of this condition is crucial for […]
Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Among the various types of EDS, Type 4, also known as the vascular type, is one of the most severe and life-threatening forms. This type is primarily caused by mutations in the COL5A1 gene. Understanding […]
Dyskeratosis Congenita (DC) is a rare, inherited bone marrow failure syndrome characterized by the triad of reticulated skin pigmentation, nail dystrophy, and oral leukoplakia. Mutations in the DKC1 gene, located on the X chromosome, are known to cause the X-linked form of this disorder. Recognizing the symptoms of DKC1 gene dyskeratosis congenita is crucial for […]
— Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect connective tissues — primarily skin, joints, and blood vessel walls. EDS is known for causing overly flexible joints and stretchy, fragile skin. Type 6 Ehlers-Danlos Syndrome, also known as Kyphoscoliotic EDS, is caused by mutations in the PLOD1 gene. This specific type is […]
Dyssegmental Dysplasia, Silverman-Handmaker type, is a rare genetic disorder that significantly impacts the development of bone and cartilage. This condition is caused by mutations in the HSPG2 gene, which plays a crucial role in the structural integrity and function of the extracellular matrix. Understanding the symptoms associated with this disorder is essential for early diagnosis […]
Ehlers-Danlos Syndrome (EDS) represents a group of genetic disorders that affect the connective tissues in the body, which provide strength and elasticity to the skin, bones, blood vessels, and other tissues. Among the various types of EDS, Type 7A, also known as Arthrochalasia EDS (aEDS), is caused by mutations in the COL1A1 gene. This specific […]
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