978 results match your criteria Cutis Laxa Elastolysis


Platelet-rich Plasma for Skin Rejuvenation and Treatment of Actinic Elastosis in the Lower Eyelid Area.

Cureus 2018 Jul 18;10(7):e2999. Epub 2018 Jul 18.

Plastic Surgery, Waldkrankenhaus Bonn, Bonn, DEU.

Background Treatment of the lower eyelid region to rejuvenate the skin or treat actinic elastosis often proves difficult. Established treatment options, such as hyaluronic acid injections, botulinum toxin injections, microneedling, skin resurfacing (microdermabrasion, chemical peel (exfoliation), laser treatment), as well as blepharoplasties and autologous fat transfers, can be associated with significant risks and increased patient burden. Furthermore, they may not be effective for treating the signs of skin aging or actinic elastosis, including dark rings under the eyes, a lack of volume and cutis laxa. Read More

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https://www.cureus.com/articles/11999-platelet-rich-plasma-f
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http://dx.doi.org/10.7759/cureus.2999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260498PMC
July 2018
6 Reads

A novel mutation causing recessive cutis laxa with unusual manifestations of bleeding diathesis and defective wound healing.

Turk J Haematol 2018 Nov 26. Epub 2018 Nov 26.

Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Turkey.

Objective: Autosomal recessive cutis laxa type IIA (ARCL2A) is a rare congenital disorder characterized by loose and elastic skin, growth and developmental delay, and skeletal anomalies. It is caused by biallelic mutations in . Those mutations lead to increased pH in secretory vesicles and thereby to impaired glycosyltransferase activity and organelle trafficking. Read More

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http://dx.doi.org/10.4274/tjh.2018.0325DOI Listing
November 2018
2 Reads

Acquired Cutis Laxa Presenting as Pedunculated Eyelid Plaques in an Adult.

Ophthalmology 2018 Dec;125(12):1952

Department of Ophthalmology, University of Montreal, Montreal, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183210
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http://dx.doi.org/10.1016/j.ophtha.2018.08.028DOI Listing
December 2018
2 Reads

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature.

Ann Thorac Med 2018 Oct-Dec;13(4):254-256

Department of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Cutis laxa (CL) is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Here, we report an unusual presentation in a 15-year-old male patient who is a known patient of CL who presented with bilateral pneumothorax. He was successfully managed initially by chest tube insertion and then he was treated surgically with bilateral staged thoracoscopy, apical bullectomy, and pleurodesis with full uneventful recovery. Read More

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http://dx.doi.org/10.4103/atm.ATM_402_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196669PMC
November 2018
6 Reads

[Multifocal chalazodermic amyloidosis: The concept of immunoglobulinemic elastopathy].

Ann Dermatol Venereol 2018 Dec 9;145(12):777-784. Epub 2018 Oct 9.

Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1 place de l'hôpital, 67091, Strasbourg, France.

Introduction: Impairment of dermal elastic tissue occurs in different entities associated with immunoglobulins or immunoglobulin-derived protein-secreting clonal plasma cell proliferations, such as amyloid elastosis, anetodermic nodular amyloidosis or monoclonal gammopathy-associated cutis laxa. We report a case of cutaneous immunoglobulinemic amyloidosis revealed by a unique chalazodermic presentation and we review elastic tissue impairment in patients with monoclonal gammopathies.

Observation: A 67-year-old woman consulted for non-infiltrated anetodermic lesions on the upper left quadrant of her abdomen present for ten years. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183052
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http://dx.doi.org/10.1016/j.annder.2018.07.021DOI Listing
December 2018
6 Reads

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in .

Mol Syndromol 2018 Jul 8;9(4):190-196. Epub 2018 Jun 8.

Unités Fonctionnelles de Fœtopathologie.

mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Read More

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https://www.karger.com/Article/FullText/489838
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http://dx.doi.org/10.1159/000489838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103346PMC
July 2018
12 Reads

Swollen hand joints, arthralgia, photosensitivity and generalized acquired cutis laxa-like presentation of leprosy.

J Dtsch Dermatol Ges 2018 Aug;16(8):1026-1028

Dermatology, Flat no. 11, Manomay apartment, Khande mala, Savatanagar, CIDCO, Nashik, State-Maharashtra, India.

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http://doi.wiley.com/10.1111/ddg.13617
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http://dx.doi.org/10.1111/ddg.13617DOI Listing
August 2018
3 Reads

Schwellung der Handgelenke, Arthralgie, Photosensibilität und erworbene generalisierte Cutis-laxa-artige Manifestation einer Lepra.

J Dtsch Dermatol Ges 2018 Aug;16(8):1026-1028

Dermatology, Flat no. 11, Manomay apartment, Khande mala, Savatanagar, CIDCO, Nashik, State-Maharashtra, India.

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http://doi.wiley.com/10.1111/ddg.13617_g
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http://dx.doi.org/10.1111/ddg.13617_gDOI Listing
August 2018
15 Reads

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Hum Mol Genet 2018 Nov;27(21):3801-3812

Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.

Chronic obstructive pulmonary disease (COPD), one of the leading causes of death worldwide, is substantially influenced by genetic factors. Alpha-1 antitrypsin deficiency demonstrates that rare coding variants of large effect can influence COPD susceptibility. To identify additional rare coding variants in patients with severe COPD, we conducted whole exome sequencing analysis in 2543 subjects from two family-based studies (Boston Early-Onset COPD Study and International COPD Genetics Network) and one case-control study (COPDGene). Read More

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http://dx.doi.org/10.1093/hmg/ddy269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196654PMC
November 2018
14 Reads

[Autosomal recessive cutis laxa: New genes identified].

Authors:
O Dereure

Ann Dermatol Venereol 2018 Aug - Sep;145(8-9):554-555. Epub 2018 Jul 26.

Département de dermatologie et Inserm U 1058, université Montpellier, 34090 Montpellier cedex 5, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183042
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http://dx.doi.org/10.1016/j.annder.2018.05.003DOI Listing
July 2018
4 Reads

Cutis laxa for diagnosis of γ1-heavy-chain deposition disease: Report of four cases.

J Dermatol 2018 Oct 23;45(10):1211-1215. Epub 2018 Jul 23.

Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, INSERM UMRS_1165, Paris Diderot University, Sorbonne Paris Cité, Paris, France.

Heavy-chain deposition disease (HCDD) is characterized by tissue deposits of a truncated monoclonal immunoglobulin heavy-chain (HC) on basement membranes. Diagnosis is usually made on kidney biopsy, showing nodular glomerulosclerosis with HC deposits which can be missed, resulting in delay in diagnosis. We report four γ1-HCDD patients presenting with cutis laxa, hypocomplementemia and hypoalbuminemia. Read More

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http://doi.wiley.com/10.1111/1346-8138.14544
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http://dx.doi.org/10.1111/1346-8138.14544DOI Listing
October 2018
11 Reads

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Expert Rev Clin Pharmacol 2018 Jul 19;11(7):689-703. Epub 2018 Jul 19.

b Division of Medical Genetics , IRCCS-Casa Sollievo della Sofferenza , San Giovanni Rotondo , FG , Italy.

Introduction: Joint hypermobility (JH) is the hallmark of many hereditary soft connective tissue disorders, including Ehlers-Danlos syndromes and related disorders, disorders of the TGFβ-pathway, lateral meningocele syndrome, arterial tortuosity syndrome, and cutis laxa syndromes. Contemporary practice separates individuals with isolated, non-syndromic JH from patients with Mendelian syndromes and those with hypermobility spectrum disorders. The latter is a new nosologic entity grouping together individuals with JH and related musculoskeletal manifestations, but lacking inclusion criteria for well-defined and/or single-gene disorders. Read More

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https://www.tandfonline.com/doi/full/10.1080/17512433.2018.1
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http://dx.doi.org/10.1080/17512433.2018.1497973DOI Listing
July 2018
6 Reads

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Exp Dermatol 2018 Jun 28. Epub 2018 Jun 28.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

In ATP6V0A2-related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological manifestations. The phenotype remains incompletely characterized, especially in adult patients. Glycosylation defects and reduced acidification of secretory vesicles contribute to the pathogenesis, but the consequences at the clinical level remain to be determined. Read More

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http://doi.wiley.com/10.1111/exd.13723
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http://dx.doi.org/10.1111/exd.13723DOI Listing
June 2018
15 Reads

Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.

J Pak Med Assoc 2018 May;68(5):793-796

Department of Pediatrics, Unit II, Civil Hospital.

Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient. Read More

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May 2018
6 Reads
0.400 Impact Factor

Case of acquired cutis laxa with preceding urticarial eruption treated by diphenyl sulfone.

J Dermatol 2018 Nov 21;45(11):e292-e293. Epub 2018 May 21.

Department of Dermatology, Tokyo Women's Medical University, Tokyo, Japan.

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http://doi.wiley.com/10.1111/1346-8138.14465
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http://dx.doi.org/10.1111/1346-8138.14465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282697PMC
November 2018
5 Reads

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

Neurogenetics 2018 May 12. Epub 2018 May 12.

Department of Clinical Genetics, Odense University Hospital, J. B. Winsløws Vej 4, 5000, Odense C, Denmark.

Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), which consists of two domains, the glutamate 5-kinase (G5K) and the gamma-glutamyl phosphate reductase (GR5P) domain. The location of the mutations in the gene has influence on whether the amino acid levels are affected. Read More

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http://link.springer.com/10.1007/s10048-018-0547-7
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http://dx.doi.org/10.1007/s10048-018-0547-7DOI Listing
May 2018
9 Reads

A case of generalized acquired cutis laxa.

Int J Dermatol 2018 11 4;57(11):1369-1371. Epub 2018 May 4.

Department of Dermatology, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.

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http://doi.wiley.com/10.1111/ijd.13998
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http://dx.doi.org/10.1111/ijd.13998DOI Listing
November 2018
12 Reads

Elastin, arterial mechanics, and cardiovascular disease.

Am J Physiol Heart Circ Physiol 2018 Aug 6;315(2):H189-H205. Epub 2018 Apr 6.

Department of Mechanical Engineering and Materials Science, Washington University , St. Louis, Missouri.

Large, elastic arteries are composed of cells and a specialized extracellular matrix that provides reversible elasticity and strength. Elastin is the matrix protein responsible for this reversible elasticity that reduces the workload on the heart and dampens pulsatile flow in distal arteries. Here, we summarize the elastin protein biochemistry, self-association behavior, cross-linking process, and multistep elastic fiber assembly that provide large arteries with their unique mechanical properties. Read More

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http://dx.doi.org/10.1152/ajpheart.00087.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139627PMC
August 2018
2 Reads

Cutis laxa in a patient with 1p36 deletion syndrome.

J Dermatol 2018 Jul 3;45(7):871-873. Epub 2018 Apr 3.

Department of Dermatology, Shanghai Children's Medical Center, Shanghai Jiaotong University, School of Medicine, Shanghai, China.

Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, dilated cardiomyopathy, seizures, hirsutism and cutis laxa who was diagnosed with 1p36 deletion syndrome by chromosome microarray analysis. This patient is the first reported case of 1p36 deletion syndrome associated with cutis laxa and our results suggest that the 1p36 region contains one or more genes relevant to cutis laxa. Read More

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http://dx.doi.org/10.1111/1346-8138.14311DOI Listing
July 2018
10 Reads

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

Am J Case Rep 2018 Mar 30;19:374-381. Epub 2018 Mar 30.

Division of Hematology/Oncology, Loma Linda University School of Medicine, Loma Linda, CA, USA.

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890616PMC
March 2018
4 Reads

Acquired cutis laxa associated with inflammatory bowel disease, inflammatory arthritis and IgA nephropathy.

Indian J Dermatol Venereol Leprol 2018 Nov-Dec;84(6):763

Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_904_16DOI Listing
March 2018
6 Reads

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Pediatr Clin North Am 2018 04;65(2):375-388

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:

Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955173018
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http://dx.doi.org/10.1016/j.pcl.2017.11.012DOI Listing
April 2018
16 Reads

Elastin-driven genetic diseases.

Matrix Biol 2018 Oct 28;71-72:144-160. Epub 2018 Feb 28.

National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, MD, USA. Electronic address:

Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X173036
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http://dx.doi.org/10.1016/j.matbio.2018.02.021DOI Listing
October 2018
4 Reads

Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease.

Indian Dermatol Online J 2018 Jan-Feb;9(1):44-46

Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.

Acquired cutis laxa (ACL) is a rare connective tissue disorder characterized by pendulous and coarsely wrinkled skin. There have been few cases of its association to monoclonal immunoglobulin deposition disease (MIDD), which constitutes the light chain (LCDD), heavy chain (HCDD), and light and heavy chain (LHCDD) deposition disease. MIDD predominantly involves the kidney. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_403_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803942PMC
February 2018
18 Reads

Incidental Detection of Bilateral Large Urinary Bladder Diverticulae on Tc99m Ethylene Dicysteine Renography with Single-photon Emission Computed Tomography-Computed Tomography.

Indian J Nucl Med 2018 Jan-Mar;33(1):79-81

Department of Nuclear Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

The complementary anatomical and functional information provided by hybrid imaging with single-photon emission computed tomography-CT (SPECT-CT) is a very useful imaging tool in selected cases where anatomical information is lacking as in the scenario of dynamic renal scintigraphy. The authors present a case of a 5-year-old male child with symptoms suggestive of cutis laxa with urinary tract infection. The child underwent dynamic renal scintigraphy with Tc99m ethylene dicysteine for cortical function and drainage assessment. Read More

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http://dx.doi.org/10.4103/ijnm.IJNM_115_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798110PMC
February 2018
2 Reads

Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Ultrastruct Pathol 2018 Mar-Apr;42(2):91-96. Epub 2018 Feb 9.

a Yorkshire Regional Genetics Service , Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust , Leeds , UK.

Geroderma osteodysplasticum (GO) has clinical and histological features that overlap with other causes of wrinkly skin. Here we present the case of a child diagnosed with GO following exome sequencing of a panel of genes covering the wide differential diagnosis. The histological features of the overlapping conditions are presented, highlighting the utility of panel testing for conditions of this type. Read More

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http://dx.doi.org/10.1080/01913123.2018.1427166DOI Listing
August 2018
15 Reads

[Clinical and genetic analysis of a patient with cutis laxa].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):100-103

Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. Email:

OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Read More

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http://doi.med.wanfangdata.com.cn/10.3760/cma.j.issn.1003-94
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.01.023DOI Listing
February 2018
7 Reads

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

Mol Genet Metab 2018 03 31;123(3):364-374. Epub 2018 Jan 31.

Center for Child and Adolescent Medicine, Department I, Im Neuenheimer Feld 669, 69120 Heidelberg, Germany. Electronic address:

Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. >100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.01.008DOI Listing
March 2018
13 Reads

Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.

Ann Thorac Surg 2018 Feb;105(2):e59-e61

Department of Cardiac Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00034975173118
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http://dx.doi.org/10.1016/j.athoracsur.2017.08.041DOI Listing
February 2018
11 Reads

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Am J Med Genet A 2018 03 17;176(3):668-675. Epub 2018 Jan 17.

Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. Read More

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http://doi.wiley.com/10.1002/ajmg.a.38604
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http://dx.doi.org/10.1002/ajmg.a.38604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838527PMC
March 2018
15 Reads

Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients.

Am J Dermatopathol 2018 Jun;40(6):433-437

Division of Dermatopathology, Department of Medicine, University of Arizona, Tucson, AZ.

Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001084DOI Listing
June 2018
17 Reads

Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase subunits, ATP6V0A2 and ATP6V0A4.

J Biol Chem 2018 02 8;293(8):2787-2800. Epub 2018 Jan 8.

From the Dental Research Institute, Faculty of Dentistry, University of Toronto, Toronto, Ontario M5G 1G6 and

The subunit is the largest of 15 different subunits that make up the vacuolar H-ATPase (V-ATPase) complex, where it functions in proton translocation. In mammals, this subunit has four paralogous isoforms, 1-4, which may encode signals for targeting assembled V-ATPases to specific intracellular locations. Despite the functional importance of the subunit, its structure remains controversial. Read More

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http://dx.doi.org/10.1074/jbc.M117.818872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827428PMC
February 2018
10 Reads

Multiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis.

Eur J Dermatol 2017 12;27(6):654-655

Department of Dermatology, College of Medicine, Ewha Womans University, Seoul, Korea.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ej
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http://dx.doi.org/10.1684/ejd.2017.3099DOI Listing
December 2017
5 Reads

Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.

Eur J Hum Genet 2018 05 30;26(5):618-621. Epub 2017 Nov 30.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.

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http://dx.doi.org/10.1038/s41431-017-0044-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945621PMC
May 2018
6 Reads
4.350 Impact Factor

Clinical implications of de Barsy syndrome.

Paediatr Anaesth 2018 Jan 17;28(1):59-62. Epub 2017 Nov 17.

Department of Anesthesiology, Mayo Clinic, Rochester, MN, USA.

Background: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability.

Aims: The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome.

Methods: A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. Read More

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http://dx.doi.org/10.1111/pan.13283DOI Listing
January 2018
8 Reads

Mutations in the X-linked cause a glycosylation disorder with autophagic defects.

J Exp Med 2017 Dec 10;214(12):3707-3729. Epub 2017 Nov 10.

Laboratory of Epithelial Biology and Disease, Imagine Institute, Paris, France

The biogenesis of the multi-subunit vacuolar-type H-ATPase (V-ATPase) is initiated in the endoplasmic reticulum with the assembly of the proton pore V0, which is controlled by a group of assembly factors. Here, we identify two hemizygous missense mutations in the extracellular domain of the accessory V-ATPase subunit ATP6AP2 (also known as the [pro]renin receptor) responsible for a glycosylation disorder with liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that deficiency in the mouse liver caused hypoglycosylation of serum proteins and autophagy defects. Read More

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http://www.jem.org/lookup/doi/10.1084/jem.20170453
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http://dx.doi.org/10.1084/jem.20170453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716037PMC
December 2017
19 Reads

Peritoneal Dialysis Catheter Removal Post-Transplant - A Rare Case of Delayed Bowel Perforation.

Perit Dial Int 2017 Nov-Dec;37(6):650-651

Nottingham Renal and Urology Unit, Nottingham Children's Hospital, QMC, Nottingham, UK.

Peritoneal dialysis (PD) is a well-established form of renal replacement therapy and the practice of leaving catheters post-transplantation widely accepted. We present a rare complication: a child presenting with anal protrusion of the PD catheter.The patient is an 11-year-old boy with a background of renal dysplasia and congenital cutis laxa. Read More

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http://dx.doi.org/10.3747/pdi.2016.00226DOI Listing
July 2018
10 Reads

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c. Read More

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017
27 Reads

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

Indian Dermatol Online J 2017 Sep-Oct;8(5):352-354

Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in gene. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_334_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621197PMC
October 2017
11 Reads

Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature.

Cardiovasc Pathol 2017 Nov - Dec;31:34-40. Epub 2017 Jul 27.

Emory University School of Medicine, Department of Pediatric Pathology, Atlanta, GA, USA. Electronic address:

The majority of thoracic aortic aneurysms (TAA) in the pediatric population are due to post repair etiology (iatrogenic). Although rare, underlying inheritable disease and congenital cardiac anomalies represent the most common non-iatrogenic cause of TAA among patients in this age group (1-21 years of age). Herein, we present a case series of 9aortic aneurysms with varying underlying etiology. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10548807173005
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http://dx.doi.org/10.1016/j.carpath.2017.07.005DOI Listing
July 2018
23 Reads

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.

Eur J Med Genet 2017 Dec 12;60(12):635-638. Epub 2017 Aug 12.

Department of Medical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. Read More

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http://dx.doi.org/10.1016/j.ejmg.2017.08.002DOI Listing
December 2017
14 Reads

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

Eur J Paediatr Neurol 2017 Nov 18;21(6):912-920. Epub 2017 Jul 18.

University of Groningen, University Medical Centre Groningen, Department of Radiology, Groningen, The Netherlands. Electronic address:

The autosomal dominant progeroid form of cutis laxa is a recently identified multiple congenital anomaly disorder characterized by thin, wrinkled skin, a progeroid appearance, intra-uterine growth retardation, postnatal growth restriction, psychomotor developmental delay, microcephaly, cataract, hypotonia and contractures. De novo heterozygous mutations in ALDH18A1 have been described in this condition. We present neuroimaging abnormalities in three patients. Read More

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http://dx.doi.org/10.1016/j.ejpn.2017.07.003DOI Listing
November 2017
7 Reads

RESULTS OF MINIMAL INVASIVE TREATMENT IN LOCALIZED ACQUIRED CUTIS LAXA TYPE 1 AND TYPE 2 - CASE REPORT AND DISCUSSION.

Authors:
U Wollina

Georgian Med News 2017 Jun(267):17-19

Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany.

Cutis laxa is a disease of premature ageing. While the congenital type is characterized by mutations of genes involved in extracellular matrix turnover, acquired cutis laxa is a rare disease that can be induced by a variety of exogenous factors. We present a case of acquired type 2 cutis laxa of the neck due to excessive exposure to natural sunlight and a type 1 facial acquired cutis laxa, both significantly improved by minor invasive procedures. Read More

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June 2017
6 Reads

Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.

World J Pediatr Congenit Heart Surg 2017 Jan 1:2150135117698458. Epub 2017 Jan 1.

4 Genetic Medicine, University of Nebraska Medical Center, Omaha, NE, USA.

Aortic aneurysms requiring surgery in early childhood are rare. Herein we describe the case of a three-year-old with massive aneurysmal aortic dilation secondary to the rare and often lethal genetic disorder, cutis laxa. Initial thoracic aortic aneurysm gene panel was negative. Read More

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http://dx.doi.org/10.1177/2150135117698458DOI Listing
January 2017
34 Reads

Amino acid synthesis deficiencies.

Authors:
T J de Koning

J Inherit Metab Dis 2017 07 26;40(4):609-620. Epub 2017 Jun 26.

Paediatrician for Inborn Errors of Metabolism, University of Groningen, University Medical Centre Groningen, Groningen, Netherlands.

In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids. Read More

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http://dx.doi.org/10.1007/s10545-017-0063-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500668PMC
July 2017
24 Reads