WActinic elastosis, also known as solar elastosis, is an accumulation of abnormal elastin in the dermis of the skin, or in the conjunctiva of the eye, which occurs as a result of the cumulative effects of prolonged and excessive sun exposure, a process known as photoaging.
WBruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. Both diseases are uncommon, but concurrence is extremely rare which makes Bruck syndrome very difficult to research. Bruck syndrome is thought to be an atypical variant of osteogenesis imperfecta most resembling type III, if not its own disease. Multiple gene mutations associated with osteogenesis imperfecta are not seen in Bruck syndrome. Many affected individuals are within the same family, and pedigree data supports that the disease is acquired through autosomal recessive inheritance. Bruck syndrome has features of congenital contractures, bone fragility, recurring bone fractures, flexion joint and limb deformities, pterygia, short body height, and progressive kyphoscoliosis. Individuals encounter restricted mobility and pulmonary function. A reduction in bone mineral content and larger hydroxyapatite crystals are also detectable Joint contractures are primarily bilateral and symmetrical, and most prone to ankles. Bruck syndrome has no effect on intelligence, vision, or hearing.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WEhlers–Danlos syndromes are a group of rare genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WEhlers–Danlos syndromes are a group of rare genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
WEhlers–Danlos syndromes are a group of rare genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
WElastosis perforans serpiginosa is a unique perforating disorder characterized by transepidermal elimination of elastic fibers and distinctive clinical lesions, which are serpiginous in distribution and can be associated with specific diseases.
WLinear focal elastosis or elastotic striae is a skin condition that presents with asymptomatic, palpable or atrophic, yellow lines of the middle and lower back, thighs, arms and breasts.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WGerodermia osteodysplastica (GO), is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.
WPseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).
WHomocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.
WEhlers–Danlos syndromes are a group of rare genetic connective tissue disorders. Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
WInterferon-induced transmembrane protein 5 is a gene that encodes a membrane protein thought to play a role in bone mineralization.
WLinear focal elastosis or elastotic striae is a skin condition that presents with asymptomatic, palpable or atrophic, yellow lines of the middle and lower back, thighs, arms and breasts.
WOsteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Complications may include cervical artery dissection and aortic dissection.
WPerforating calcific elastosis is an acquired, localized cutaneous disorder, most frequently found in obese, multiparous, middle-aged women, characterized by lax, well-circumscribed, reticulated or cobble-stoned plaques occurring in the periumbilical region with keratotic surface papules.
WLoeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment.
WMarfan syndrome (MFS) is a genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms of MFS is variable.
WOccipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.
WOsteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Complications may include cervical artery dissection and aortic dissection.
WCutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
WPerforating calcific elastosis is an acquired, localized cutaneous disorder, most frequently found in obese, multiparous, middle-aged women, characterized by lax, well-circumscribed, reticulated or cobble-stoned plaques occurring in the periumbilical region with keratotic surface papules.
WPerforating calcific elastosis is an acquired, localized cutaneous disorder, most frequently found in obese, multiparous, middle-aged women, characterized by lax, well-circumscribed, reticulated or cobble-stoned plaques occurring in the periumbilical region with keratotic surface papules.
WPerforating calcific elastosis is an acquired, localized cutaneous disorder, most frequently found in obese, multiparous, middle-aged women, characterized by lax, well-circumscribed, reticulated or cobble-stoned plaques occurring in the periumbilical region with keratotic surface papules.
WPseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).
WActinic elastosis, also known as solar elastosis, is an accumulation of abnormal elastin in the dermis of the skin, or in the conjunctiva of the eye, which occurs as a result of the cumulative effects of prolonged and excessive sun exposure, a process known as photoaging.
WStretch marks, also known as Striae or Striae distensae, are a form of scarring on the skin with an off-color hue. Over time they may diminish, but will not disappear completely. Stretch marks are caused by tearing of the dermis during periods of rapid growth of the body, such as during puberty or pregnancy. In pregnancy they usually form during the last trimester, and usually on the belly, but also commonly occur on the breasts, thighs, hips, lower back and buttocks; these are known as striae gravidarum. Stretch marks may also be influenced by the hormonal changes associated with puberty, pregnancy, bodybuilding, or hormone replacement therapy. There is no evidence that creams used during pregnancy prevent stretch marks. Once they have formed there is no clearly effective treatment, though various methods have been attempted and studied.
WStretch marks, also known as Striae or Striae distensae, are a form of scarring on the skin with an off-color hue. Over time they may diminish, but will not disappear completely. Stretch marks are caused by tearing of the dermis during periods of rapid growth of the body, such as during puberty or pregnancy. In pregnancy they usually form during the last trimester, and usually on the belly, but also commonly occur on the breasts, thighs, hips, lower back and buttocks; these are known as striae gravidarum. Stretch marks may also be influenced by the hormonal changes associated with puberty, pregnancy, bodybuilding, or hormone replacement therapy. There is no evidence that creams used during pregnancy prevent stretch marks. Once they have formed there is no clearly effective treatment, though various methods have been attempted and studied.