|
Meige Disease
Meige disease, or Meige lymphedema is a genetic disorder in which lymphedema later develops. Meige disease is a primary lymphedema that is not caused by another condition; secondary lymphedema is a typical consequence of a mastectomy. Another primary lymphedema is Milroy disease in which the lymphedema is present at birth. ''Lymphedema tarda'' occurs after the age of 35. Meige disease has its onset around the time of puberty. It is an autosomal dominant disease. It has been linked to a mutations in the ‘forkhead’ family transcription factor (FOXC2) gene located on the long arm of chromosome 16 (16q24.3). It is the most common form of primary lymphedema, and about 2000 cases have been identified. Meige disease usually causes lymphedema of the legs, however, other areas of the body may be affected, including the arms, face and larynx. See also * Aagenaes syndrome * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ syst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymphedema
Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body's immune system and returns interstitial fluid to the bloodstream. Lymphedema is most frequently a complication of cancer treatment or parasitic infections, but it can also be seen in a number of genetic disorders. Though incurable and progressive, a number of treatments may improve symptoms. Tissues with lymphedema are at high risk of infection because the lymphatic system has been compromised. While there is no cure, treatment may improve outcomes. This commonly include compression therapy, good skin care, exercise, and manual lymphatic drainage (MLD), which together are known as combined decongestive therapy. Diuretics are not useful. Signs and symptoms The most common manifestation of lymphedema is soft tissue swelling, edema. As the disorder progresses, worsening edema a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mastectomy
Mastectomy is the medical term for the surgical removal of one or both breasts, partially or completely. A mastectomy is usually carried out to treat breast cancer. In some cases, women believed to be at high risk of breast cancer have the operation as a preventive measure. Alternatively, some women can choose to have a wide local excision, also known as a lumpectomy, an operation in which a small volume of breast tissue containing the tumor and a surrounding margin of healthy tissue is removed to conserve the breast. Both mastectomy and lumpectomy are referred to as "local therapies" for breast cancer, targeting the area of the tumor, as opposed to systemic therapies, such as chemotherapy, hormonal therapy, or immunotherapy. The decision to perform a mastectomy is based on various factors, including breast size, the number of lesions, biologic aggressiveness of a breast cancer, the availability of adjuvant radiation, and the willingness of the patient to accept higher rates of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Milroy Disease
Milroy's disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy of soft tissues. It was named by Sir William Osler for William Milroy, a Canadian physician, who described a case in 1892, though it was first described by Rudolf Virchow in 1863. Presentation The most common presentation of Milroy Disease is unilateral lower extremity lymphedema, and may also be accompanied by hydrocele. Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs. Genetics This disease is more common in women and an association with the g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FOXC2
Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the ''FOXC2'' gene. FOXC2 is a member of the fork head box (FOX) family of transcription factors. Structure and function The protein is 501 amino acids in length. The gene has no introns; the single exon is approximately 1.5kb in size. FOX transcription factors are expressed during development and are associated with a number of cellular and developmental differentiation processes. FOXC2 is required during early development of the kidneys, including differentiation of podocytes and maturation of the glomerular basement membrane. It is also involved in the early development of the heart. An increased expression of FOXC2 in adipocytes can increase the amount of brown adipose tissue leading to lower weight and an increased sensitivity to insulin. Role in disease Absence of FOXC2 h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aagenaes Syndrome
Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin1. Approximately one hundred people with this disease are known. The condition is particularly frequent in southern Norway, where more than half the cases are reported, but it is found in patients in other parts of Europe and the United States. It is named after Øystein Aagenæs, a Norwegian paediatrician. It is also called cholestasis-lymphedema syndrome (CLS). The first case of cholestasis usually improves spontaneously during preschool and early school age and re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lymphedema Praecox
Lymphedema praecoxSabiston 18 edition is a condition characterized by swelling of the soft tissues in which an excessive amount of lymph has accumulated, and generally develops in females between the ages of nine and twenty-five. This is the most common form of primary lymphedema, accounting for about 80% of the patients. See also * Lymphedema * Lymphedema-distichiasis syndrome * Aagenaes syndrome * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ... References External links Vascular-related cutaneous conditions {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
