Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. [scielo.br]

The way in which the condition presents itself is different according to how it is inherited or acquired. Cutis laxa is also known as generalised elastolysis. [dermnetnz.org]

The clinical presentation and the mode of inheritance show considerable heterogeneity. [karger.com]

presenting at a very young age of two months. [ijdvl.com]

The determination of which form of cutis laxa is present is aided by information about the associated symptoms and by family histories. Treatment There is no effective cure for any of these disorders. [dxline.info]

• Developmental Delay

  […] tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. [malacards.org]

  delay, and ophthalmologic abnormalities. [uniprot.org]

  delay, dysmorphism, osseous abnormality, and CNS manifestations. [ncbi.nlm.nih.gov]

• Overeating

  The dysmorphic features and abnormal neurological symptoms become severe over time, and some patients may lose the ability to walk by adolescence. However, the skin conditions may improve over time. [preventiongenetics.com]

  More images than ever – over 5000 in total – aid diagnosis by displaying variations in disease manifestations according to body location, skin type and severity. [books.google.ro]

  Type 2 - the cutaneous features vary between wrinkly skin and more pronounced cutis laxa with excess folds of skin over the face, large flexures and dorsa of the hands and feet, which may improve over time. [pcds.org.uk]

• Diarrhea

  Lymphedema Osteoarthritis Epiphyseal dysplasia Molar tooth sign on MRI Enlarged joints Multiple epiphyseal dysplasia Autosomal dominant inheritance Hydrocephalus Hypoglycemia Brain atrophy Poor speech Narrow forehead Open mouth Chronic diarrhea Torticollis [mendelian.co]

  […] type 2 DSPP Dentinogenesis imperfecta, Shields type 2 DSPP Dentinogenesis imperfecta, Shields type 3 DSPP Dermatitis, atopic type 2 FLG Dermatopathia pigmentosa reticularis KRT14 Diaphyseal medullary stenosis with malignant fibrous histiocytoma MTAP Diarrhea [centogene.com]

  Systemic involvement includes failure to thrive due to chronic diarrhea, malabsorption, congenital hydronephrosis, urethral and bladder diverticulae. [geneticaysexologiaintegral.blogspot.com]

• Cutis Laxa

  Abstract Cutis laxa is a rare group of inherited and acquired disorders characterized by loose and redundant skin with reduced elasticity. Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families. [ncbi.nlm.nih.gov]

  Symptoms include cutis laxa (loose... more... [malacards.org]

  Cutis laxa type 3A autosomal recessive (ALDH18A1) DNA Test Leave Message Reporting Time: 5 Week Test Cost: 30000.00 /- Rs Sample Type: EDTA blood or DNA Cutis laxa type 3A autosomal recessive (ALDH18A1) Test Description Cutis laxa type 3A autosomal recessive [dnalabsindia.com]

  Syndrome of cutis laxa, ligamentous laxity, and delayed development. Pediatrics 1983; 72: 850-6.] [cags.org.ae]

• Skin Disease

  […] geneSkin Books about skin diseases: See the DermNet NZ bookstore [dermnetnz.org]

  Acquired cutis laxa has developed after a febrile illness, inflammatory skin disease such a lupus eryhymatosis or erythema multiform, amyloidosis, hypersensitivity reaction to penicillin and in infants born from women who were taking penicillamine. [aacc.tums.ac.ir]

  Nose polyposis, familial; Notalgia paresthetica; Nova In our Skin Information Center, We have covered lots of Skin Diseases and Conditions such as Acne Vulgaris, Acrodermatitis Syndrome, Crest Syndrome, Cutis Laxa, Fifth's Disease, Hirsutism, Ichthyosis [redbudmusic.com]

  […] in 50% of cases develops following episodes of urticaria or angioedema, extensive inflammatory skin disease, adverse cutaneous drug eruptions, or a number of other dermatological conditions Clinically there may be widespread massive folds of lax skin, [pcds.org.uk]

  In addition to the loose skin, this form of the disease is characterized by bone abnormalities, the delayed joining of the cranial (skull) bones, hip dislocation, curvature of the spine, flat feet, and excessive tooth decay. [dxline.info]

• Hip Dislocation

  Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. [malacards.org]

  Diseases related with Hypertelorism and Hip dislocation In the following list you will find some of the most common rare diseases related to Hypertelorism and Hip dislocation that can help you solving undiagnosed cases. [mendelian.co]

  dislocation and characteristic facies, is described. [onlinelibrary.wiley.com]

  Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling [monarchinitiative.org]

  Iraq Reisner et al. (1971) described two sisters with congenital cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. The parents were first cousins. [cags.org.ae]

• Joint Dislocation

  Acronym ARCL3A Synonyms Cutis laxa autosomal recessive type IIIA Cutis laxa corneal clouding and mental retardation De Barsy syndrome De Barsy syndrome A Developmental delay-choreoathetosis-joint dislocation-lax skin Mental retardation joint hypermobility [uniprot.org]

  dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Muscular dystrophy-dystroglycanopathy FKTN Myelodysplastic syndrome, somatic TET2 Myoclonus Dystonie SGCE Myopathy due to myoadenylate deaminase deficiency AMPD1 [meduniwien.ac.at]

  Diseases related with Hypertelorism and Hip dislocation In the following list you will find some of the most common rare diseases related to Hypertelorism and Hip dislocation that can help you solving undiagnosed cases. [mendelian.co]

  […] laxity, type 1, with or without fractures B3GALT6 Spondyloepimetaphyseal dysplasia, MATN3 related MATN3 Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3 Spondylometaepiphyseal dysplasia, short limb-hand type DDR2 Steatocystoma multiplex [centogene.com]

• Suggestibility

  Based on the recently unraveled novel genetic entity we also review the genetic aspects in cutis laxa syndromes including genotype-phenotype correlations and suggest a practical diagnostic approach. [mayoclinic.pure.elsevier.com]

  Genetic and biochemical evidence suggests that TGF-β‎ regulation and elastic fiber organization are separable functions of LTBP4. Access to the complete content on Oxford Medicine Online requires a subscription or purchase. [oxfordmedicine.com]

  Our results suggest that CCL is not only a disease of the elastic fibers of the connective tissue but also of the collagen fibers, with a central role of the fibroblast. [medicaljournals.se]

  Child also had stridor and indirect laryngoscopy suggested laryngomalacia. The child was born of a second-degree consanguineous marriage at 33 weeks gestation with birth weight of 1.1 kg. [idoj.in]

We suggest a simple and practical diagnostic approach for the workup of patients with a suspected autosomal recessive cutis laxa ( Figure 5 ). [geneticaysexologiaintegral.blogspot.com]

We suggest a simple and practical diagnostic approach for the workup of patients with a suspected autosomal recessive cutis laxa (Figure 5). [nature.com]

Fluorometholone 0.1% Suspension Completed NCT03123614 Phase 4 Loteprednol Etabonate 0.5% Oph Gel;Prednisolone Acetate 1% Oph Susp 3 A Randomised Controlled Trial of Non-absorbable (Silk) Sutures Verses Absorbable (Vicryl) Sutures During the Surgical Treatment [malacards.org]

Management and treatment There are no effective therapeutic strategies available for ARCL1. Care should be multidisciplinary with symptomatic treatment of pulmonary emphysema, prophylactic therapy for infections and hernia repair. [orpha.net]

What is the treatment for cutis laxa? There is no specific treatment for cutis laxa or preventing the progression of the disease. Treatment is directed at managing any complications that may arise from associated internal organ involvement. [dermnetnz.org]

[…] studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment [books.google.ro]

[…] bending forwards Download Figure: 3 As above Download Figure: 4 Cutis laxa Download Figure: 5 Cutis laxa Download Figure: 6 Inherited cutis laxa Management There is no specific treatment for cutis laxa or for preventing progression Treatment is directed [pcds.org.uk]

Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. [scielo.br]

[…] related to FBLN5 gene prognosis reporting PUBMED functional study FBLN5 staging; metastasis; malignant trasformation; progression "Effect of Fibulin 5 on cell proliferation and inva ...... " 25129461 Pubmed reporting Reported miRNA regulation of FBLN5 [cis.hku.hk]

Cardiopulmonary abnormalities are common and mainly determine the prognosis and life expectancy. Pulmonary emphysema, cor pulmonale, and right-sided heart failure generally caused by pulmonary disease are often seen in infancy. [unboundmedicine.com]

Prognosis The prognosis for patients is variable: life expectancy is generally not reduced. Although the skin manifestations improve with age, cognitive decline has been reported in some older patients. Expert reviewer(s): M GUILLARD - Dr D.J. [orpha.net]

The variable presence of protein glycosylation abnormalities in the diverse clinical forms of the wrinkled skin-cutis laxa syndrome spectrum necessitates revisiting the diagnostic criteria to be able to offer adequate prognosis assessment and counseling [biomedsearch.com]

Etiology ARCL1 is genetically heterogeneous and, although the etiology remains unknown in the majority of cases, mutations have been identified in some patients in the FBLN5 (14q31) and EFEMP2 (11q13) genes, encoding the extracellular matrix proteins [rarediseases.info.nih.gov]

In cutis laxa patients mutations have been demonstrated in elastin or fibulin genes, but in the majority of patients the underlying genetic etiology remains unknown. [mayoclinic.pure.elsevier.com]

Epidemiology The prevalence of ARCL1 is unknown but around 60 cases have been reported in the literature so far. Clinical description The skin manifestations affect the whole body and are usually recognizable from birth. [rarediseases.info.nih.gov]

Summary Epidemiology The prevalence of ARCL1 is unknown but around 60 cases have been reported in the literature so far. Clinical description The skin manifestations affect the whole body and are usually recognizable from birth. [orpha.net]

Eye Workers Trial Recruiting NCT01969786 26 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460 27 Retinal Imaging Using NOTAL-OCT V3.0 Recruiting NCT04078672 28 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological [malacards.org]

Epidemiology Frequency Cutis laxa (elastolysis) is rare. Congenital forms of cutis laxa (elastolysis) are more common than acquired disease. The recessively inherited form is most frequent and most severe. Autosomal dominant forms also exist. [emedicine.medscape.com]

This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. [books.google.ro]

Marsden CD, Hallett M, Fahn S (1983) The nosology and pathophysiology of myoclonus. In: Marsden CD, Fahn S (eds) Movement disorders. Butterworths, London, pp 196–248 20. [springermedizin.de]

Pathophysiology Cutis laxa (elastolysis) is characterized by degenerative changes in the elastic fibers resulting in loose, pendulous skin. The skin is sagging, redundant, and stretchable, with reduced elastic recoil. [emedicine.medscape.com]

Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. Nat Rev Mol Cell Biol. 2007; 8 :917–29. [ PubMed : 17912264 ] Guerra D, Fornieri C, Bacchelli B, Lugli L, Balli F, Ferrari P. The de Barsy syndrome. [ncbi.nlm.nih.gov]

Prevention The inherited forms of cutis laxa are genetically determined and are not currently preventable. Genetic counseling can be helpful for anyone with a family history of cutis laxa. [dxline.info]

You can’t prevent cutis laxa because it’s a genetic condition. Acquired cutis laxa can’t be prevented because doctors currently don’t know the exact cause of it. [healthline.com]

These ‘matches’ can also help prevent you from re-testing the same antibody from a different source. [antibodies.com]

Mutations in ATP6V0A2 impair Golgi vesicle trafficking and prevent the production of functional glycosylation. This results in reduced or abnormal elastic fiber formation. [preventiongenetics.com]

There is no specific treatment for cutis laxa or preventing the progression of the disease. Treatment is directed at managing any complications that may arise from associated internal organ involvement. [dermnetnz.org]