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]

Mental retardation was present in most older cases in our patient cohort. 2 Figure 2. [geneticaysexologiaintegral.blogspot.com]

• Genu Valgum

  Autosomal dominant inheritance Hydrocephalus Hypoglycemia Brain atrophy Poor speech Narrow forehead Open mouth Chronic diarrhea Torticollis Tented upper lip vermilion Facial hypotonia Congenital muscular torticollis Abnormality of epiphysis morphology Genu [mendelian.co]

• Rabies

  Raby American Journal of Respiratory and Critical Care Medicine (2019) A Golgi-targeted off–on fluorescent probe for real-time monitoring of pH changes in vivo Li Fan, Xiaodong Wang, Jinyin Ge, Feng Li, Caihong Zhang, Bo Lin, Shaomin Shuang & Chuan Dong [nature.com]

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]

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]

[…] 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]

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]

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

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]

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]

[…] 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]

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]

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]

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]

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]

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]

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]

The clinical features are exaggerated by 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 [pcds.org.uk]

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]