genetic defect

Pseudoxanthoma Elasticum: Causes, Symptoms & Treatment

Pseudoxanthoma elasticum (PXE) is a rare inherited disorder also known as Grönblad-Strandberg syndrome. It primarily affects the skin, eyes, and blood vessels. What is pseudoxanthoma elasticum? The condition pseudoxanthoma elasticum is also called elastorrhexis generalista or Grönblad-Strandberg syndrome. It is a hereditary disorder. The elastic fibers of the connective tissue are affected. Grönblad-Strandberg syndrome manifests … Pseudoxanthoma Elasticum: Causes, Symptoms & Treatment

Ichthyosis: Treatment

Ichthyoses are not curable. Their treatment is therefore based on the individual signs of the disease and is therefore only symptomatic. Since the skin is overall too dry, it needs water and fat and must be “descaled”. Baths with common salt and bath oil are considered very useful. Sponges for brushing the skin are essential. … Ichthyosis: Treatment

Ichthyosis: Causes and Social Consequences

Not much is known about the causes of autosomal recessive lamellar ichthyosis. However, mutations have been found in the enzyme transglutaminase. Transglutaminase is responsible for the formation of the cell membrane in the stratum corneum cells. In the meantime, a second gene locus has been found, but what is encoded at this site is currently … Ichthyosis: Causes and Social Consequences

Ichthyosis (Ichthyosis)

Ichthyosis, also known by the technical term ichthyosis, refers to a genetically caused skin disease in which skin cell renewal is disturbed. Increased to extreme scaling and keratinization of the skin is the main feature of ichthyosis, which occurs in numerous manifestations and is triggered by errors in the genetic material. The life of sufferers … Ichthyosis (Ichthyosis)

Muscle-eye-brain Disease: Causes, Symptoms & Treatment

Muscle-eye-brain disease (MEB) belongs to the disease group of congenital muscular dystrophies, which in addition to severe dysfunction in the muscles also have malformations in the eyes and brain. All diseases of this group are hereditary. Any forms of muscle-eye-brain disease are incurable and lead to death in childhood or adolescence. What is muscle-eye-brain disease? … Muscle-eye-brain Disease: Causes, Symptoms & Treatment

Becker-Kiener Type Muscular Dystrophy: Causes, Symptoms & Treatment

Becker-Kiener type muscular dystrophy is a genetic disease of the muscles. The disease progresses at a slow rate and is gradually associated with increasing weakness of the muscles. Basically, muscular dystrophy type Becker-Kiener occurs relatively rarely. The incidence is about 1:17,000, and the disease occurs primarily in male patients. The initial manifestation of the disease … Becker-Kiener Type Muscular Dystrophy: Causes, Symptoms & Treatment

Fukuyama Type Muscular Dystrophy: Causes, Symptoms & Treatment

Fukuyama type muscular dystrophy is a rare, congenital muscle wasting disease that occurs mainly in Japan. The disease is caused by the mutated so-called FCMD gene, which is responsible for coding the protein fukutin. The disease is associated with severe mental and motor developmental abnormalities and shows progressive course, resulting in a mean life expectancy … Fukuyama Type Muscular Dystrophy: Causes, Symptoms & Treatment

Oculocutaneous Albinism Type 2: Causes, Symptoms & Treatment

Oculocutaneous albinism type 2 is the most common variant of albinism worldwide, affecting the skin, hair, and eyes. The phenotypic appearance of the disease covers a wide range, from barely visible to complete albinism. Equally variable are the visual impairments associated with this type of albinism. What is oculocutaneous albinism type 2? The main phenotypic … Oculocutaneous Albinism Type 2: Causes, Symptoms & Treatment

Fibrodysplasia Ossificans Progressiva: Causes, Symptoms & Treatment

Fibrodysplasia ossificans progressiva (FOP) is a very rare hereditary disorder characterized by progressive ossification of the skeleton. Even the smallest injuries trigger additional bone growth. There is not yet a causative treatment for this disease. What is fibrodysplasia ossificans progressiva? The term fibrodysplasia ossificans progressiva already indicates progressive bone growth. This occurs in spurts, and … Fibrodysplasia Ossificans Progressiva: Causes, Symptoms & Treatment

Retinal Dysplasia: Causes, Symptoms & Treatment

So-called retinal dysplasia is a pathological malformation of the human retina. In most cases, it is a genetic condition. Retinal dysplasia is often manifested by the appearance of gray lines or dots in focus, distortion of areas, or retinal detachment. What is retinal dysplasia? Hereditary retinal dysplasia is based on defective development of the retina … Retinal Dysplasia: Causes, Symptoms & Treatment

Adenoma Sebaceum: Causes, Symptoms & Treatment

Adenoma sebaceum involves neoplasms of body tissues in the facial area. Numerous small nodules form mainly on the cheeks. The skin lesions are benign tumors. What is adenoma sebaceum? Adenoma sebaceum is a tuberous sclerosis. This is a congenital hereditary disease. It is inherited in an autosomal dominant manner. In this form of inheritance, one … Adenoma Sebaceum: Causes, Symptoms & Treatment

Osteomyelofibrosis: Causes, Symptoms & Treatment

Osteomyelofibrosis is a very rare, chronic, and incurable disease of the bone marrow. It is associated with progressive restriction of blood cell formation, leading to various complications such as anemia, bleeding, and increased risk of infection. What is osteomyelofibrosis? Osteomyelofibrosis (also known as chronic idiopathic myelofibrosis, osteomyelosclerosis, or primary myelofibrosis) is one of the so-called … Osteomyelofibrosis: Causes, Symptoms & Treatment