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Autosomal Dominant Multiple Pterygium Syndrome
Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. Presentation The key features of autosomal dominant multiple pterygium syndrome are proximal and distal joint contractures; pterygia (of the neck, axilla, elbows, or knees); variable fusion of the vertebrae, carpal, and tarsal bones; and short stature. Society Musician Patrick Henry Hughes has a type of this condition. See also * Arthrogryposis Escobar syndrome* Popliteal pterygium syndrome * List of cutaneous conditions Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ... References External links Genodermatoses Rare syndromes {{Genodermatoses-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dermatology
Dermatology is the branch of medicine dealing with the Human skin, skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A List of dermatologists, dermatologist is a specialist medical doctor who manages diseases related to skin. Etymology Attested in English in 1819, the word "dermatology" derives from the Ancient Greek, Greek δέρματος (''dermatos''), genitive of δέρμα (''derma''), "skin" (itself from δέρω ''dero'', "to flay") and -λογία ''wikt:-logia, -logia''. Neo-Latin ''dermatologia'' was coined in 1630, an anatomical term with various French and German uses attested from the 1730s. History In 1708, the first great school of dermatology became a reality at the famous Hôpital Saint-Louis in Paris, and the first textbooks (Willan's, 1798–1808) and atlases (Jean-Louis-Marc Alibert, Alibert's, 1806–1816) appeared in print around the same time.Freedber ... [...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 Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contracture
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. A contracture is usually permanent, but less commonly can be temporary (such as in McArdle disease), or resolve over time but reoccur later in life (such as in Bethlem myopathy 1). It is usually in response to prolonged hypertonic spasticity in a concentrated muscle area, such as is seen in the tightest muscles of people with conditions like spastic cerebral palsy, but can also be due to the congenital abnormal development of muscles and connective tissue in the womb. Contractures develop usually when normally elastic tissues such as muscles or tendons are replaced by inelastic tissues ( fibrosis). This results in the shortening and hardening of these tissues, ultimately causing rigidity, joint deformities and a total loss of movement around the joint. Most of the physical therapy, occupational th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pterygium
A pterygium (: ''pterygia'' or ''pterygiums'') is any wing-like triangular membrane occurring in the neck, eyes, knees, elbows, ankles or digits. The term comes from the Greek word ''pterygion'' meaning "wing". Types * Popliteal pterygium syndrome, a congenital condition affecting the face, limbs, or genitalia but named after the wing-like structural anomaly behind the knee. * Pterygium (eye) or surfer's eye, a growth on the cornea of the eye. * Pterygium colli or webbed neck, a congenital skin fold of the neck down to the shoulders. * Pterygium inversum unguis or ventral pterygium, adherence of the distal portion of the nailbed to the ventral surface of the nail plate. * Pterygium unguis or dorsal pterygium, scarring between the proximal nail fold and matrix. Pterygium of the eye A pterygium reduces vision in several ways: # Distortion of the corneal optics. This begins usually when the pterygium is greater than 2mm from the corneal limbus. # Disruption of the tear ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Short Stature
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ''short''. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and sex, which corresponds to the shortest 2.3% of individuals in that population. Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis. The most common causes of short stature in childhood are constitutional growth delay or familial short stature. From a medical perspective, severe shortness can be a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patrick Henry Hughes
Patrick Henry Hughes (born March 10, 1988) is an American multi-instrumental musician from Louisville, Kentucky who was born without eyes and without the ability to fully straighten his arms and legs, making him unable to walk. Biography Patrick Henry Hughes was born March 10, 1988, to Patrick John and Patricia Hughes. Upon his delivery, the medical staff noticed physical anomalies. These were diagnosed as bilateral anophthalmia with pterygium syndrome and congenital bilateral hip dysplasia. His father, Patrick John Hughes, introduced him to the piano at the age of nine months. Patrick has studied piano in the years since and later began the study of trumpet. He has two younger brothers, Jesse and Cameron. Patrick Henry's national fame began in 2006 while a student at the University of Louisville. At the suggestion of Louisville's marching band director, Dr. Greg Byrne, Patrick Henry joined the Louisville Marching Band, playing trumpet while his father pushed him in his wheel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arthrogryposis
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints' (', 'joint'; ', late Latin form of late Greek ', 'hooking'). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic (is a syndrome or part of a syndrome). Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. Signs and symptoms Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. Every joint ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Popliteal Pterygium Syndrome
Popliteal pterygium syndrome (PPS) is a rare inherited genetic disorder characterized by distinctive craniofacial, musculoskeletal and genitorourinary symptoms. It is primarily caused by a mutation to the ''IRF6'' gene and follows an autosomal dominant inheritance pattern. The syndrome is associated with many features such as popliteal webbing ( pterygium), cleft lip or palate, syndactyly, and genetic anomalies with the severity and expression of each symptom varying between affected individuals. PPS has an approximate incidence rate of 1 in every 300 000 live births. The condition was first described by Trélat in 1869 and later named by Gorlin and colleagues in 1968. The term '' pterygium'' is derived from the Greek word for "wing," referring to the wing-like tissue structures often observed in affected individuals. Symptoms and signs Clinical expressions of PPS are highly variable and display different combinations of abnormalities depending on the individual, but include the ... [...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 Human body, body and composed of Human skin, skin, hair, Nail (anatomy), 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 (skin), 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. Embryology, In the embryo, the epidermis, hair, and glands form from the ectod ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary Skin condition, skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis; the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
