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]

• Disability

  雑誌 Hum Mol Genet 20:1285-9 (2011) DOI: 10.1093/hmg/ddq569 文献 PMID: 21868677 著者 Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L タイトル MED23 mutation links intellectual disability to dysregulation of immediate early gene expression [genome.jp]

  SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures [mendelian.co]

  GO patients also do not tend to have intellectual disabilities or microcephaly. De Barsy syndrome patients may develop cataracts. They generally have intellectual disabilities. [forgottendiseases.org]

  Disease Ontology Browser autosomal recessive cutis laxa type III (DOID:0070143) Alliance: disease page Synonyms: cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome Alt IDs: MESH:C535990, ORDO:2962, UMLS_CUI:C0268354 Definition [informatics.jax.org]

  Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. [monarchinitiative.org]

• Short Stature

  STEEL SYNDROME; STLS Is also known as dislocated hips and radial heads, carpal coalition, scoliosis, and short stature;bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome Related symptoms [mendelian.co]

  Additional symptoms include: short stature sparse hair cutis laxa Acquired Cutis Laxa Some people have symptoms, but don’t have the genetic changes associated with cutis laxa. This type of cutis laxa is known as acquired cutis laxa. [healthline.com]

  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 [cutislaxa.pitt.edu]

  Her aging face and short stature caught our attention, and the treatment of the patient was accepted by our hospital. She underwent a thorough examination. [karger.com]

  These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. [mdpi.com]

• Anemia

  Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. ‎ Página 397 - Gly Lys Lys Val Leu Gly Ala Phe Ser Asp Gly Leu Ala His Leu Asp Asn Leu Lys Gly Thr NO. ‎ [books.google.es]

  […] hemoglobin 141749 Methemoglobinemias, beta- 141900 Sickle cell anemia 603903 Thalassemias, beta- 613985 HE S X1 3p14.3 Growth hormone deficiency with pituitary anomalies 182230 Pituitary hormone deficiency, combined, 5 182230 Septooptic dysplasia 182230 [institutobernabeu.com]

  Fanconi anemia panel BRCA2, BRIP1, ERCC4, FANCA, FANCB,... Hemophagocytic Lymphohistiocytosis panel PRF1, UNC13D, STX11, STXBP2 Ichthyosis extended panel ABCA12, ALOX12B, ALOXE3, AP1S1, CERS3,... [centogene.com]

  Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings. J Pediatr. 1984 Aug. 105(2):247-51. [Medline]. Alehossein M, Pourgholami M, Kamrani K, Soltani M, Yazdi A, Salamati P. [emedicine.medscape.com]

• Developmental Disorder

  […] delay Short stature SOURCES: MONDO OMIM ORPHANET UMLS More info about SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS High match 3MC SYNDROME 3MC syndrome describes a rare developmental disorder, that unifies the overlapping [mendelian.co]

  Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993, 5: 11-16. 10.1038/ng0993-11. 2. [ojrd.biomedcentral.com]

  Therefore, it is not surprising that some patients with a combined N- and O-glycan biosynthesis defect present with a congenital developmental disorder of the central nervous system. [geneticaysexologiaintegral.blogspot.com]

  Genet Mol Biol 2005; 28: 181–190. 19 Zlotogora J : Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. [nature.com]

  Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. Am J Med Genet. 1999;85:194. [ncbi.nlm.nih.gov]

• Hypertension

  Next Document: The role of mitochondrial genome in essential hypertension in a Chinese Han population. [biomedsearch.com]

  Electrocardiography showed aortic dilatation, mitral valve prolapsed and sign of pulmonary arterial hypertension. Thoracic computed tomography revealed alveolar condensations and localizations of emphysema. [panafrican-med-journal.com]

  Arterial tortuosity with aortic and arterial aneurysms and stenosis (the isthmus aorta in particular is often stenotic); pulmonary hypertension, stenosis and dilatation of pulmonary arteries; hemorrhagic stroke Respiratory involvement. [ncbi.nlm.nih.gov]

• Heart Disease

  Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council. [ijp.tums.pub]

  Pulmonary artery stenosis, congenital heart disease, and/or hollow viscus diverticula are likely to cause early death, with cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) being the most common [ncbi.nlm.nih.gov]

• Dermatitis

  Acquired cutis laxa with dermatitis herpetiformis and sarcoidosis. J Am Acad Dermatol. 1993 Nov. 29(5 Pt 2):846-8. [Medline]. Ting HC, Foo MH, Wang F. Acquired cutis laxa and multiple myeloma. Br J Dermatol. 1984 Mar. 110(3):363-7. [Medline]. [emedicine.medscape.com]

  […] autosomal recessive ALDH18A1 Cutis laxa type 3B, autosomal recessive PYCR1 Cutis laxa, autosomal dominant ELN Czech dysplasia COL2A1 Dentin dysplasia, type 2 DSPP Dentinogenesis imperfecta, Shields type 2 DSPP Dentinogenesis imperfecta, Shields type 3 DSPP Dermatitis [centogene.com]

  Dermatologic Dermatoses (Atopic dermatitis) Surface irritants (Fiberglass, wool, foreign bodies, insect bites) Cold urticaria Covering more than 250 of the most common dermatologic conditions from A to Z, Treatment of Skin Disease, 5th Edition, by Drs [redbudmusic.com]

• Pruritus

  ', 'subscapular pruritus', en 'hereditary localized pruritus'. [redbudmusic.com]

  In hyperthyroid individuals, the skin often presents with some of the following symptoms: softness, perspiration, heat, itching, generalized pruritus, chronic urticaria, vitiligo, and diffuse skin pigmentation. [karger.com]

• Hearing Impairment

  impairment in humans and defects in hair cell function and hearing in zebrafish. [genome.jp]

  Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. [mendelian.co]

  Nonsyndromic hereditary hearing impairment Noonan like syndrome Noonan syndrome; Norman Roberts lissencephaly syndrome Normokalemic periodic paralysis Norrie disease; Northern epilepsy Norum disease Nos-Nov. [redbudmusic.com]

  In the total number of 10 patients sensorineural hearing impairment was noted only in one child. Developmental delay was observed in the majority of the children, partially due to muscle hypotonia, and in some degree hyperflexible joints. [geneticaysexologiaintegral.blogspot.com]

• Corneal Opacity

  Haze Completed NCT00439114 17 Observational Study on Corneal Opacities in Children Completed NCT02117323 18 Femtosecond Laser-assisted Anterior Lamellar Keratoplasty Completed NCT02301598 19 Randomized Clinical Trial Comparing Transepithelial Corneal [malacards.org]

• Osteoporosis

  Congenital hip dislocation, increased joint laxity, congenital or progressive microcephaly, delayed closure of large fontanels, osteoporosis and decreased bone density are frequent findings. [orpha.net]

  Osteoporosis may also present, resulting in fragile bones that are prone to fracture. More severe complications such as cardiovascular or pulmonary symptoms rarely develop. [rarediseases.org]

  In the absence of definite treatment, emphasis on developmental assessment, physiotherapy and evaluation of osteoporosis to prevent frequent fractures is required. [e-ijd.org]

  Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and a variable degree of osteoporosis were also present in all 5. The 3 older children developed progressive prognathism. [bio2rdf.org]

  Other features include a small jaw, hip dislocations, hernias, osteoporosis, fractures, and dwarfism. As with ARCL3, there are typically neither cardiovascular nor pulmonary symptoms. [cutislaxa.pitt.edu]

• Fracture

  She had multiple bone fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneurysm, developmental emphysema, inguinal and diaphragmatic hernia, joint laxity, and pectus excavatum by age 2 years. [scholars.northwestern.edu]

  Osteoporosis may also present, resulting in fragile bones that are prone to fracture. More severe complications such as cardiovascular or pulmonary symptoms rarely develop. [rarediseases.org]

  but also fractures of the long bones. [ncbi.nlm.nih.gov]

  Normal cognition and osteopenia leading to pathological fractures, maxillary hypoplasia, and oblique furrowing from the outer canthus to the lateral border of the supraorbital ridge are discriminative features for GO. [mdpi.com]

  In the absence of definite treatment, emphasis on developmental assessment, physiotherapy and evaluation of osteoporosis to prevent frequent fractures is required. [e-ijd.org]

• Severe Short Stature

  Severe short stature and dwarfism are common in autosomal recessive CL II, De Barsy syndrome, X-linked recessive CL, gerodermia osteodysplastica, and Costello syndrome [ 10 ]. [karger.com]

  short stature/dwarfism − + + + − ++ + Spontaneous fractures ++ + − − − ++ − Joint laxity, subluxation ++ ++ + − + + − Hernias ++ + + ++ + − − Significant CV abnormalities ++ + − ++ − − ++ Pathognomonic skin histology ++ ++ + + − + − Abnormal N- and O-glycosylation [ncbi.nlm.nih.gov]

• 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]

  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]

  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]

• Seizure

  Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. [malacards.org]

  SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Is also known as ;spprs syndrome; spastic paraplegia-psychomotor retardation-seizures syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures [mendelian.co]

  The index patient presented with seizures and generalized hypotonia. [idoj.in]

  Other common manifestations include enlarged anterior fontanelle, congenital hip dislocation, high myopia, strabismus and seizures caused by malformation of cortical and cerebella tissues. [preventiongenetics.com]

  In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities. [ncbi.nlm.nih.gov]

• Convulsions

  Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M: Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions [ojrd.biomedcentral.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]

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

• Streptococcus Pneumoniae

  Two affected siblings reported by Van Maldergem et al [1988] had recurrent pneumonias. Arterial involvement. Peripheral pulmonary artery stenosis appears to be specific for this disorder. [ncbi.nlm.nih.gov]

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]