There are several forms of the disorder, which are separable. Acquired cutis laxa concomitant with nephrotic syndrome. Syndromic forms of cutis laxa, however, are caused by diverse genetic defects, mostly coding for structural extracellular matrix. Hypothyroidism owing to isolated thyrotropin deficiency has been reported in a newborn with the autosomal recessive form of congenital cutis laxa. Acquired cutis laxa, also called generalized acquired elastolysis, is the disease covered in this document. A renal biopsy specimen showed membranoproliferative glomerulonephritis type 2, and an immunofluorescent study disclosed c3 and igg deposition in the mesangial matrix and along the glomerular basement membrane. Acquired cutis laxa can occur due to such causes as a drug reaction or to an inflammatory process, such as eczema. Symptoms usually begin within the first decade of life, and include cutis laxa, skeletal problems bony growths on the back of the skull, loose joints, and short stature, and pulmonary lung, cardiovascular heart, and gastrointestinal problems such as emphysema, aneurysms, and hernias. Cutis laxa internationale genetic and rare diseases.
The neurological symptoms are less severe and life expectancy is. In latin, the medical term refers to loose or lax skin. This disorder is also known autosomal recessive cutis laxa 2a arcl2a and represents a spectrum of disease ranging from wrinkly skin syndrome on the mild end to debretype cutis laxa on the severe end. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. The evaluation involves identifying the exact symptoms and systems involved, a detailed family history, and possibly specialized testing such as a skin biopsy. Cutis laxa online mendelian inheritance in man omim 123700, 219100 is clinically defined as loose and sagging skin that demonstrates reduced elasticity and resilience figures 1555 and 1556. Cutis laxa may affect infants, children, and adults. Cutis laxa is characterised by fragmentation of cutaneous elastic fibres, giving rise to loose, sagging skin which may give the appearance of premature aging.
Sotos syndrome and cutis laxa journal of medical genetics. Cutis laxa syndrome is a rare inherited connective tissue disorder characterized by inelastic loose hanging skin, which gives the appearance of premature aging. Our observation highlights that sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth. Marshalls syndrome is a rare pediatric skin disease that is characterized by acquired, localized neutrophilic dermatitis sweets disease, followed by loss of elastic tissue in the dermis and cutis laxa. These findings suggest that the cutis laxa and wrinkly skin syndromes are phenotypic variants of the same disorder. Treating cutis laxa will depend on the extent of disease and the exact symptoms an individual may have. Cutis laxa is a disorder of connective tissue, which is the tissue that forms the bodys supportive framework. Characteristics suggestive of connective tissue dysfunction have been described in sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. Cutis laxa is either inherited or comes on later in life, usually after an illness. Generally, cutis laxa is characterized by saggy, loose, wrinkly, and inelastic skin, especially around the face, neck, arms, legs, and torso. People treated for wilsons disease are at risk for developing cutis laxa. Cutis laxa iia, cutis laxa iib, and geroderma osteoplastica.
Occipital horn syndrome ohs ohs is rare, with fewer than 100 cases reported worldwide. Cutis laxa cl is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable. It is an uncommon skin disease marked by inelastic skin, which may often hang in pendulous folds. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of sotos syndrome. The neurological symptoms are less severe and life expectancy. This form of the disease is not inherited and comes in two variations either as a widespread insidious form which is type 1 or a form associated with. If you have problems viewing pdf files, download the latest version of adobe reader. Sotos syndrome cerebral gigantism, mim 117550 is characterised by accelerated growth in childhood that usually normalises by adulthood, characteristic dysmorphism, and developmental delay. Generally, individuals with the debretype have more severe neurological and developmental abnormalities, but less severe skin symptoms. Cutis laxa nord national organization for rare disorders. A familial cutis laxa syndrome is reported in a mother and son. Cutis laxa is an extremely rare connective tissue disease that is inherited or acquired. Cutis laxa cl, or elastolysis, is a rare, inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds.
Metabolic cutis laxa syndromes mohamed 2011 journal. Cutis laxa, rare disorder in which the skin hangs in loose folds. In the mother and daughter with cutis laxa and severe pulmonary disease described by beighton 1972 and corbett et al. Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica. The term cutis laxa is latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy inelastic. The precise cause is unknown except in congenital cases where an underlying gene defect eg, in the eln, fbln4, fbln5, atp6v0a2, or atp7a genes can be identified. Autosomal dominant, autosomal recessive and xlinked recessive patterns have been described in the inherited forms. Specific treatments may include surgeries for hernias, skeletal malformations, and intestinal diverticula.
However, this disorder might also cause more severe health problems. Occipital horn syndrome ohs mim 304150 or xlinked cutis laxa, the mildest menkes phenotype, manifests with cutis laxa fig. We propose that, in this case, cutis laxa may be related to an abnormal immune response. Histology shows degenerative changes in the elastic fibers of the connective tissue throughout the body. Clinic al recognition of eds is not always straightforward and for a definite diagnosis, molecular testing can be of great assistance. Cutis laxa cl is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Their research focuses on identifying the genetic causes of cutis laxa in an effort to better understand the effect of gene mutations and develop new treatments. Cutis laxa is a rare dermatological condition, characterized by elastic fiber loss, resulting in very lax skin.
Sotos syndrome and cutis laxa stephen p robertson, agnes bankier abstract characteristics suggestive of connective tissue dysfunction have been described in sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. Several factors, such as copper deficiency, elastin quantity and morphology, and elastases and elastase inhibitors, are implicated. If you are within a family with cutis laxa syndrome disorder, you can be more susceptible to the disease compared to those who are not. With cutis laxa, symptoms can be visible, so that the patients will be able to observe this syndrome. It includes cutis laxa with growth delay, dwarfism and intellectual delay. The cutis laxa research study is an ongoing project coordinated by the university of pittsburgh. In some patients the clinical findings are limited to the skin, the phenotype being primarily of cosmetic concern. Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. In march, the american journal of medecine genetics published an article showing that a mutation on the gene ptdss1 leads to a very rare type of cutis laxa. The cause of cutis laxa is unknown, but the defect appears to be an abnormality in the formation or structure of the protein elastin, the principal component of the elastic connective tissues of the skin.
Characterized by skin laxity associated with systemic manifestations variables. Symptoms of cutis laxa can begin during infancy or at any time during life. The disorder affects the connective tissue that acts as a supportive framework for the body. Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. Cutis laxa syndrome congenital generalized elastolysis is a rare disease integrated by a heterogeneous group of diseases characterized by loose redundant and pendulous skin hanging, which can affect other organs. Discriminative features in three autosomal recessive cutis laxa syndromes. Little is known about skin involvement in sotos syndrome. We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in sotos syndrome. Molecular genetics and pathogenesis of ehlersdanlos. Progeroide autosomalrezessive cutislaxasyndrome springerlink. Cutis laxa is caused by abnormal elastin metabolism that results in reduced elasticity of the skin. Severe aortic dilatation may occur because of medial elastic fiber degeneration.
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Congenital cutis laxa is a rare hereditary connective. Connective tissue provides structure and strength to the muscles, joints, organs, and skin. Neonatal cutis laxa and hypertrichosis lanuginosa in sotos. The disorder affects males and females and persons of all races equally. Cutis laxa is a rare connective tissue disorder that is characterized by lax, inelastic and redundant skin that gives an appearance of premature aging. Cutis laxa case report 685 discussion cutis laxa is a rare disorder that occurs due to alterations in the elastic tissue caused by defects in its synthesis or by its destruction. Cutis laxa cl is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement inguinal hernia, cardiopulmonary disease, and emphysema. Cosmetic surgery can also be used to improve some of. In other cases, however, the cutaneous findings are associated with a number of. Nearfatal presentation of bilateral pneumothorax in cutis laxa patient. Alle autosomalrezessiven cutislaxasyndrome haben mehr oder weniger ausgepragte progeroide zuge.
Connective tissue is the bodys supporting framework of tissue consisting of strands of collagen, elastic fibres between muscles and around muscle groups and blood vessels, and simple cells. Cutis laxa pediatrics merck manuals professional edition. Cutis laxa is also known as generalised elastolysis. Cutis laxa symptoms, diagnosis, treatments and causes. The main aim of the project is to develop a synthetic elastic protein as medicine agent to improve or restore the vascular elasticity when it is failing in genetic disorders such as cutis laxa and williams syndrome, but also in non syndromic pathologies such as sleeping apneia. Cutis laxa internationale nord national organization. The cutis laxa internationale is a voluntary, nonprofit association. It is characterized by wedgeshaped calcium deposits in a bone at the base of the skull the occipital bone, coarse hair, and loose skin and joints. In addition, the son had klippeltranaunayweber syndrome, which may be related to his underlying disorder. Histopathological findings are characterized by disruption of elastic fibers. The clinical presentation and the mode of inheritance show considerable heterogeneity.
According to this study of 3 cases, this is a new type of cutis laxa that needs to. Cutis laxa is a very rare connective tissues disorder which can be either inherited or acquired. Cutis laxa pictures, symptoms, causes, diagnosis and. Cutis laxa is usually not diagnosed through a single test, but a thorough clinical evaluation.
Although any part of the body may be affected, the loose skin appearance is most prominent around the eyes, face, neck, shoulders, and thighs. Occipital horn syndrome sometimes called xlinked cutis laxa is a less severe form of menkes syndrome that begins in early to middle childhood. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental. In some cases extracutaneous sites are involved including the lung and gastrointestinal tract histology of cutis laxa.
Classification of autosomal recessive cutis laxa is further divided into type ii arcl2, associated with bone dystrophy, joint laxity, and developmental delay. Cutis laxa may be inherited autosomal dominant, autosomal recessive, or xlinked recessive or may occur sporadically. Wrinkled, inelastic skin occurs in many cases as an acquired condition. In cutis laxa, dermal elastic fibres are both altered and reduced in. Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Pdf acquired cutis laxa in childhood sweets syndrome. Congenital cutis laxa may present with internal organ.
Sweets syndrome leading to acquired cutis laxa marshall. Xlinked cutis laxa elastolysis is identical to ehlersdanlos syndrome type ix, and both conditions are now known as occipital horn syndrome. They serve a worldwide audience with the mission of breaking the isolation of patients and families affected by cutis laxa, a rare genetic disorder of the connective tissue. Cardiovascular complications of cutis laxa syndrome. However, people without this history can be exposed to the disorder by acquiring it. Cutis laxa, in many cases, only affects the skin appearance. Cutis laxa is an acquired or inherited skin disorder characterized by wrinkled, inelastic skin. Cutis laxa genetic and rare diseases information center. Cutis laxa is a rare disorder that causes a defect or an insufficiency of the bodys connective tissue, affecting the normal structural framework of the skin, muscles, joints, and sometimes, internal organs.
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